R37C (p.Arg37Cys) variant of ANK2 (Ankyrin-2)
R37C (p.Arg37Cys) in ANK2 (Ankyrin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R37C (p.Arg37Cys) variant details
- p.Arg37Cys
- rs369877280
- ClinGen CA3049937
- ClinVar RCV001545260
- ClinVar RCV001824994
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- CADD 18.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.171
- Cited in: Long QT Syndrome Overview. (PMID 20301308)