A39T (p.Ala39Thr) variant of ANK2 (Ankyrin-2)
A39T (p.Ala39Thr) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A39T (p.Ala39Thr) variant details
- p.Ala39Thr
- rs868182830
- gnomAD 4-113151110-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- CADD 6.24
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- ANK2 Death domain domainome 1.0: score 0.0763
- Literature evidence available