W2S (p.Trp2Ser) variant of OPA1 (O60313)
W2S (p.Trp2Ser) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
W2S (p.Trp2Ser) variant details
- p.Trp2Ser
- gnomAD 3-193593382-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.60
- CADD 26.10
- PolyPhen-2 0.10
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available