Y10H (p.Tyr10His) variant of ACTN2 (Alpha-actinin-2)
Y10H (p.Tyr10His) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
Y10H (p.Tyr10His) variant details
- p.Tyr10His
- gnomAD 1-236686701-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.55
- CADD 25.30
- PolyPhen-2 0.97
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available