A35S (p.Ala35Ser) variant of ACTN2 (Alpha-actinin-2)
A35S (p.Ala35Ser) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A35S (p.Ala35Ser) variant details
- p.Ala35Ser
- cosmic curated COSV63971
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.17
- CADD 24.60
- PolyPhen-2 0.01
- SIFT 0.01
- Population evidence available
- Structural context available