R37H (p.Arg37His) variant of ANK2 (Ankyrin-2)
R37H (p.Arg37His) in ANK2 (Ankyrin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of ANK2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R37H (p.Arg37His) variant details
- p.Arg37His
- gnomAD rs2098115966
- Uncertain significance
- ANK2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- CADD 18.50
- ClinVar: Uncertain significance (ANK2-related disorder)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.171