N17S (p.Asn17Ser) variant of ANK2 (Ankyrin-2)
N17S (p.Asn17Ser) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N17S (p.Asn17Ser) variant details
- p.Asn17Ser
- rs1181915642
- gnomAD 4-113117354-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- CADD 11.90
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.478
- Literature evidence available