C11S (p.Cys11Ser) variant of OPA1 (O60313)
C11S (p.Cys11Ser) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
C11S (p.Cys11Ser) variant details
- p.Cys11Ser
- gnomAD 3-193593408-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.53
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available