N17Y (p.Asn17Tyr) variant of ANK2 (Ankyrin-2)
N17Y (p.Asn17Tyr) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N17Y (p.Asn17Tyr) variant details
- p.Asn17Tyr
- gnomAD 4-113117353-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- CADD 17.40
- Most common in the South Asian population (allele frequency 1.7e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.478
- Literature evidence available