D30N (p.Asp30Asn) variant of ANK2 (Ankyrin-2)
D30N (p.Asp30Asn) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D30N (p.Asp30Asn) variant details
- p.Asp30Asn
- rs1333554820
- gnomAD 4-113117365-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- CADD 19.10
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.202
- Literature evidence available