D17N (p.Asp17Asn) variant of ACTN2 (Alpha-actinin-2)
D17N (p.Asp17Asn) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
D17N (p.Asp17Asn) variant details
- p.Asp17Asn
- gnomAD 1-236686722-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.08
- CADD 23.50
- PolyPhen-2 0.04
- SIFT 0.23
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available