D5G (p.Asp5Gly) variant of ANK2 (Ankyrin-2)
D5G (p.Asp5Gly) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D5G (p.Asp5Gly) variant details
- p.Asp5Gly
- Ensembl rs1433952417
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.11
- CADD 25.90
- PolyPhen-2 0.42
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.143