R44H (p.Arg44His) variant of CHEK1 (O14757)
R44H (p.Arg44His) in CHEK1 (O14757) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R44H (p.Arg44His) variant details
- p.Arg44His
- rs537858020
- 1000Genomes rs537858020
- ExAC rs537858020
- TOPMed rs537858020
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.27
- CADD 20.20
- PolyPhen-2 0.75
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:GIH population (allele frequency 0.005)
- Structural context available