Y14H (p.Tyr14His) variant of ACTN2 (Alpha-actinin-2)
Y14H (p.Tyr14His) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
Y14H (p.Tyr14His) variant details
- p.Tyr14His
- gnomAD 1-236686713-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.38
- CADD 23.50
- PolyPhen-2 0.97
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available