C11G (p.Cys11Gly) variant of OPA1 (O60313)
C11G (p.Cys11Gly) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
C11G (p.Cys11Gly) variant details
- p.Cys11Gly
- gnomAD 3-193593408-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.60
- CADD 24.30
- PolyPhen-2 0.01
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available