Y19N (p.Tyr19Asn) variant of ACTN2 (Alpha-actinin-2)
Y19N (p.Tyr19Asn) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
Y19N (p.Tyr19Asn) variant details
- p.Tyr19Asn
- gnomAD 1-236686728-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.34
- CADD 23.90
- PolyPhen-2 0.97
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available