D45G (p.Asp45Gly) variant of ANK2 (Ankyrin-2)
D45G (p.Asp45Gly) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D45G (p.Asp45Gly) variant details
- p.Asp45Gly
- TOPMed rs1047496087
- gnomAD rs1047496087
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.61
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- ANK2 Death domain domainome 1.0: score 0.101