Q3K (p.Gln3Lys) variant of ACTN2 (Alpha-actinin-2)
Q3K (p.Gln3Lys) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
Q3K (p.Gln3Lys) variant details
- p.Gln3Lys
- gnomAD 1-236686680-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.31
- CADD 22.40
- PolyPhen-2 0.03
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available