A7V (p.Ala7Val) variant of ANK2 (Ankyrin-2)
A7V (p.Ala7Val) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A7V (p.Ala7Val) variant details
- p.Ala7Val
- rs75050054
- gnomAD 4-113145903-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- CADD 14.50
- Most common in the HGDP:YORUBA population (allele frequency 0.048)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.0525
- Literature evidence available