A38A (p.Ala38Ala) variant of ANK2 (Ankyrin-2)
A38A (p.Ala38Ala) in ANK2 (Ankyrin-2) is a synonymous 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.
A38A (p.Ala38Ala) variant details
- p.Ala38Ala
- rs1056901729
- gnomAD 4-113151109-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.174
- CADD 13.20
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.474
- Literature evidence available