D17G (p.Asp17Gly) variant of ACTN2 (Alpha-actinin-2)
D17G (p.Asp17Gly) 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, published literature, and structural context.
D17G (p.Asp17Gly) variant details
- p.Asp17Gly
- gnomAD 1-236686723-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.12
- CADD 26.30
- PolyPhen-2 0.05
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available