C11W (p.Cys11Trp) variant of OPA1 (O60313)
C11W (p.Cys11Trp) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
C11W (p.Cys11Trp) variant details
- p.Cys11Trp
- gnomAD 3-193614723-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.58
- CADD 24.50
- PolyPhen-2 0.22
- SIFT 0.00
- Most common in the HGDP:JAPANESE population (allele frequency 1)
- Structural context available
- Literature evidence available