P6H (p.Pro6His) variant of ACTN2 (Alpha-actinin-2)
P6H (p.Pro6His) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
P6H (p.Pro6His) variant details
- p.Pro6His
- gnomAD 1-236686690-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.30
- CADD 23.90
- PolyPhen-2 0.03
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available