L36P (p.Leu36Pro) variant of ANK2 (Ankyrin-2)
L36P (p.Leu36Pro) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L36P (p.Leu36Pro) variant details
- p.Leu36Pro
- rs1372457839
- gnomAD 4-113145942-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- CADD 16.80
- Population evidence available
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.221
- Literature evidence available