P34S (p.Pro34Ser) variant of ACTN2 (Alpha-actinin-2)
P34S (p.Pro34Ser) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
P34S (p.Pro34Ser) variant details
- p.Pro34Ser
- gnomAD 1-236686773-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.33
- CADD 24.30
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available