D30D (p.Asp30Asp) variant of ANK2 (Ankyrin-2)
D30D (p.Asp30Asp) in ANK2 (Ankyrin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D30D (p.Asp30Asp) variant details
- p.Asp30Asp
- gnomAD 4-113145958-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.268
- CADD 17.40
- Most common in the Non-Finnish European population (allele frequency 2.2e-06)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.202
- Literature evidence available