Q21H (p.Gln21His) variant of ANK2 (Ankyrin-2)
Q21H (p.Gln21His) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q21H (p.Gln21His) variant details
- p.Gln21His
- rs2097060526
- gnomAD 4-113151094-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- CADD 13.20
- Most common in the REMAINING population (allele frequency 2.4e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.826
- Literature evidence available