Y19H (p.Tyr19His) variant of ACTN2 (Alpha-actinin-2)
Y19H (p.Tyr19His) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
Y19H (p.Tyr19His) variant details
- p.Tyr19His
- gnomAD 1-236686728-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.28
- CADD 23.80
- PolyPhen-2 0.97
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available