N2Y (p.Asn2Tyr) variant of ACTN2 (Alpha-actinin-2)
N2Y (p.Asn2Tyr) 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.
N2Y (p.Asn2Tyr) variant details
- p.Asn2Tyr
- gnomAD 1-236686677-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.34
- CADD 24.60
- PolyPhen-2 0.14
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available