H42R (p.His42Arg) variant of OPA1 (O60313)
H42R (p.His42Arg) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
H42R (p.His42Arg) variant details
- p.His42Arg
- gnomAD 3-193614815-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.29
- CADD 14.60
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the HGDP:OROQEN population (allele frequency 0.12)
- Structural context available
- Literature evidence available