D15A (p.Asp15Ala) variant of ACTN2 (Alpha-actinin-2)
D15A (p.Asp15Ala) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
D15A (p.Asp15Ala) variant details
- p.Asp15Ala
- TOPMed rs1181394258
- gnomAD rs1181394258
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.15
- CADD 25.30
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available