P34T (p.Pro34Thr) variant of ACTN2 (Alpha-actinin-2)
P34T (p.Pro34Thr) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
P34T (p.Pro34Thr) variant details
- p.Pro34Thr
- gnomAD 1-236686773-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.35
- CADD 23.80
- PolyPhen-2 0.02
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available