A38T (p.Ala38Thr) variant of ANK2 (Ankyrin-2)
A38T (p.Ala38Thr) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A38T (p.Ala38Thr) variant details
- p.Ala38Thr
- rs1419809451
- gnomAD 4-113151107-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- CADD 10.90
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.474
- Literature evidence available