N17N (p.Asn17Asn) variant of ANK2 (Ankyrin-2)
N17N (p.Asn17Asn) in ANK2 (Ankyrin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N17N (p.Asn17Asn) variant details
- p.Asn17Asn
- rs1489481220
- gnomAD 4-113049779-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.14
- CADD 8.35
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.478
- Literature evidence available