A35V (p.Ala35Val) variant of ACTN2 (Alpha-actinin-2)
A35V (p.Ala35Val) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A35V (p.Ala35Val) variant details
- p.Ala35Val
- gnomAD 1-236686777-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.19
- CADD 24.70
- PolyPhen-2 0.02
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available