D30V (p.Asp30Val) variant of ANK2 (Ankyrin-2)
D30V (p.Asp30Val) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D30V (p.Asp30Val) variant details
- p.Asp30Val
- gnomAD 4-113117366-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- CADD 19.60
- Most common in the South Asian population (allele frequency 1.7e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.202
- Literature evidence available