P26A (p.Pro26Ala) variant of ANK2 (Ankyrin-2)
P26A (p.Pro26Ala) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P26A (p.Pro26Ala) variant details
- p.Pro26Ala
- gnomAD 4-113145953-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- CADD 17.20
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.118
- Literature evidence available