S10Y (p.Ser10Tyr) variant of ANK2 (Ankyrin-2)
S10Y (p.Ser10Tyr) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S10Y (p.Ser10Tyr) variant details
- p.Ser10Tyr
- rs1460940236
- gnomAD 4-113117309-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- CADD 18.00
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.464
- Literature evidence available