A6T (p.Ala6Thr) variant of ANK2 (Ankyrin-2)
A6T (p.Ala6Thr) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A6T (p.Ala6Thr) variant details
- p.Ala6Thr
- rs1335618863
- gnomAD 4-113117293-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- CADD 18.90
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.485
- Literature evidence available