D27G (p.Asp27Gly) variant of ACTN2 (Alpha-actinin-2)
D27G (p.Asp27Gly) 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.
D27G (p.Asp27Gly) variant details
- p.Asp27Gly
- gnomAD 1-236686753-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.46
- CADD 24.20
- PolyPhen-2 0.96
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available