Concurrent OPA1 mutation and chromosome 3q deletion leading to Behr syndrome: a case report

BMC Pediatrics

Table 1 In-silico damaging effect prediction of missense variants

Softwares/Algorithms	Score	Deleterious/Pathogenicity threshold
Clin Predict	0.99	> 0.5
REVEL	0.92	> 0.5
M-CAP	0.39	> 0.11
ReVe	0.99	> 0.66
VEST3	0.97	> 0.61
FATHMM	−4.00	≤ − 0.92
SIFT	0.00	≤0.01
PolyPhen2-HDIV	1.00	> 0.93
PolyPhen2-HVAR	0.99	> 0.62
GERP++	5.89	> 3.86
CADD	6.33	> 23.95

ISSN: 1471-2431