S10A (p.Ser10Ala) variant of ANK2 (Ankyrin-2)
S10A (p.Ser10Ala) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S10A (p.Ser10Ala) variant details
- p.Ser10Ala
- rs2096812314
- gnomAD 4-113145893-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- CADD 16.40
- Population evidence available
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.464
- Literature evidence available