Q22K (p.Gln22Lys) variant of ACTN2 (Alpha-actinin-2)
Q22K (p.Gln22Lys) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
Q22K (p.Gln22Lys) variant details
- p.Gln22Lys
- gnomAD 1-236686737-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.25
- CADD 23.80
- PolyPhen-2 0.68
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available