D30G (p.Asp30Gly) variant of ANK2 (Ankyrin-2)
D30G (p.Asp30Gly) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D30G (p.Asp30Gly) variant details
- p.Asp30Gly
- gnomAD 4-113145957-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- CADD 21.40
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.202
- Literature evidence available