S22C (p.Ser22Cys) variant of OPA1 (O60313)
S22C (p.Ser22Cys) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
S22C (p.Ser22Cys) variant details
- p.Ser22Cys
- gnomAD rs1267545673
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.24
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available