D15G (p.Asp15Gly) variant of ACTN2 (Alpha-actinin-2)
D15G (p.Asp15Gly) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
D15G (p.Asp15Gly) variant details
- p.Asp15Gly
- gnomAD 1-236686717-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.16
- CADD 23.90
- PolyPhen-2 0.01
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available