G42V (p.Gly42Val) variant of ANK2 (Ankyrin-2)
G42V (p.Gly42Val) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G42V (p.Gly42Val) variant details
- p.Gly42Val
- rs775485891
- gnomAD 4-113145996-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- CADD 12.70
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.481
- Literature evidence available