P34L (p.Pro34Leu) variant of ACTN2 (Alpha-actinin-2)
P34L (p.Pro34Leu) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
P34L (p.Pro34Leu) variant details
- p.Pro34Leu
- gnomAD 1-236686774-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.39
- CADD 24.70
- PolyPhen-2 0.08
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available