G42R (p.Gly42Arg) variant of ANK2 (Ankyrin-2)
G42R (p.Gly42Arg) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G42R (p.Gly42Arg) variant details
- p.Gly42Arg
- gnomAD 4-113145995-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- CADD 16.00
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.481
- Literature evidence available