S12N (p.Ser12Asn) variant of ANK2 (Ankyrin-2)
S12N (p.Ser12Asn) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S12N (p.Ser12Asn) variant details
- p.Ser12Asn
- gnomAD 4-113145912-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- CADD 19.80
- Population evidence available
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.195
- Literature evidence available