R44P (p.Arg44Pro) variant of CHEK1 (O14757)
R44P (p.Arg44Pro) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R44P (p.Arg44Pro) variant details
- p.Arg44Pro
- 1000Genomes rs537858020
- ExAC rs537858020
- TOPMed rs537858020
- gnomAD rs537858020
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.38
- CADD 19.80
- PolyPhen-2 0.82
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available