P4S (p.Pro4Ser) variant of CHEK1 (O14757)
P4S (p.Pro4Ser) in CHEK1 (O14757) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P4S (p.Pro4Ser) variant details
- p.Pro4Ser
- ExAC rs201459198
- TOPMed rs201459198
- gnomAD rs201459198
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.18
- CADD 15.10
- PolyPhen-2 0.48
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available