N32S (p.Asn32Ser) variant of ANK2 (Ankyrin-2)
N32S (p.Asn32Ser) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N32S (p.Asn32Ser) variant details
- p.Asn32Ser
- gnomAD rs1250640997
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.28
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.384