N43S (p.Asn43Ser) variant of ANK2 (Ankyrin-2)
N43S (p.Asn43Ser) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N43S (p.Asn43Ser) variant details
- p.Asn43Ser
- cosmic curated COSV52164
- gnomAD rs1169068254
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.47
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.508