G18R (p.Gly18Arg) variant of ANK2 (Ankyrin-2)
G18R (p.Gly18Arg) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G18R (p.Gly18Arg) variant details
- p.Gly18Arg
- rs752401219
- gnomAD 4-113145926-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- CADD 20.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.828
- Literature evidence available