D29G (p.Asp29Gly) variant of ACTN2 (Alpha-actinin-2)
D29G (p.Asp29Gly) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
D29G (p.Asp29Gly) variant details
- p.Asp29Gly
- gnomAD rs1193949299
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.28
- CADD 26.10
- PolyPhen-2 0.05
- SIFT 0.04
- Most common in the Latino/Admixed American population (allele frequency 2.6e-05)
- Structural context available