C11Y (p.Cys11Tyr) variant of OPA1 (O60313)
C11Y (p.Cys11Tyr) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
C11Y (p.Cys11Tyr) variant details
- p.Cys11Tyr
- gnomAD rs1341753623
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.59
- CADD 33.00
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.55)
- Structural context available