D11V (p.Asp11Val) variant of ANK2 (Ankyrin-2)
D11V (p.Asp11Val) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D11V (p.Asp11Val) variant details
- p.Asp11Val
- rs1205644528
- gnomAD 4-113145906-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- CADD 14.90
- Most common in the Non-Finnish European population (allele frequency 1.8e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.123
- Literature evidence available