G23V (p.Gly23Val) variant of OPA1 (O60313)
G23V (p.Gly23Val) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G23V (p.Gly23Val) variant details
- p.Gly23Val
- gnomAD rs1479866542
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.48
- CADD 23.00
- PolyPhen-2 0.36
- SIFT 0.02
- Most common in the HGDP:OROQEN population (allele frequency 0.12)
- Structural context available