L36V (p.Leu36Val) variant of ANK2 (Ankyrin-2)
L36V (p.Leu36Val) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L36V (p.Leu36Val) variant details
- p.Leu36Val
- rs1018403093
- gnomAD 4-113117335-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- CADD 15.10
- Population evidence available
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.221
- Literature evidence available