G42S (p.Gly42Ser) variant of ANK2 (Ankyrin-2)
G42S (p.Gly42Ser) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G42S (p.Gly42Ser) variant details
- p.Gly42Ser
- gnomAD 4-113145965-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- CADD 20.60
- Most common in the African/African-American population (allele frequency 4.1e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.481
- Literature evidence available