D17Y (p.Asp17Tyr) variant of ACTN2 (Alpha-actinin-2)
D17Y (p.Asp17Tyr) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
D17Y (p.Asp17Tyr) variant details
- p.Asp17Tyr
- gnomAD rs1305880301
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.12
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available