D11G (p.Asp11Gly) variant of ANK2 (Ankyrin-2)
D11G (p.Asp11Gly) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D11G (p.Asp11Gly) variant details
- p.Asp11Gly
- gnomAD 4-113049760-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.25
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.123
- Literature evidence available