S34I (p.Ser34Ile) variant of ANK2 (Ankyrin-2)
S34I (p.Ser34Ile) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S34I (p.Ser34Ile) variant details
- p.Ser34Ile
- gnomAD 4-113145975-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- CADD 19.30
- Population evidence available
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.148
- Literature evidence available