Y12H (p.Tyr12His) variant of ACTN2 (Alpha-actinin-2)
Y12H (p.Tyr12His) 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, published literature, and structural context.
Y12H (p.Tyr12His) variant details
- p.Tyr12His
- gnomAD 1-236686707-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.27
- CADD 23.40
- PolyPhen-2 0.16
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available