P26Q (p.Pro26Gln) variant of ANK2 (Ankyrin-2)
P26Q (p.Pro26Gln) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P26Q (p.Pro26Gln) variant details
- p.Pro26Gln
- gnomAD 4-113151102-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- CADD 9.70
- Most common in the Non-Finnish European population (allele frequency 4.3e-06)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.118
- Literature evidence available