D11D (p.Asp11Asp) variant of ANK2 (Ankyrin-2)
D11D (p.Asp11Asp) in ANK2 (Ankyrin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D11D (p.Asp11Asp) variant details
- p.Asp11Asp
- rs2066071736
- gnomAD 4-113049761-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.514
- CADD 14.90
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.123
- Literature evidence available