R2S (p.Arg2Ser) variant of PROS1 (Vitamin K-dependent protein S)
R2S (p.Arg2Ser) in PROS1 (Vitamin K-dependent protein S) 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 0.59 / 1. The record also includes population frequency data.
R2S (p.Arg2Ser) variant details
- p.Arg2Ser
- 1000Genomes rs566125037
- ExAC rs566125037
- TOPMed rs566125037
- gnomAD rs566125037
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.64
- CADD 23.10
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)