Q8R (p.Gln8Arg) variant of ANK2 (Ankyrin-2)
Q8R (p.Gln8Arg) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q8R (p.Gln8Arg) variant details
- p.Gln8Arg
- rs2084530006
- gnomAD 4-112904510-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- CADD 19.30
- Most common in the East Asian population (allele frequency 2.9e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.407
- Literature evidence available