S10C (p.Ser10Cys) variant of ANK2 (Ankyrin-2)
S10C (p.Ser10Cys) 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, published literature, and structural context.
S10C (p.Ser10Cys) variant details
- p.Ser10Cys
- gnomAD 4-113145891-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- CADD 18.10
- Population evidence available
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.464
- Literature evidence available