L36M (p.Leu36Met) variant of ANK2 (Ankyrin-2)
L36M (p.Leu36Met) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L36M (p.Leu36Met) variant details
- p.Leu36Met
- gnomAD 4-112904506-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- CADD 23.30
- Population evidence available
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.221
- Literature evidence available