R2K (p.Arg2Lys) variant of PROS1 (Vitamin K-dependent protein S)
R2K (p.Arg2Lys) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Thrombophilia due to protein S deficiency, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data.
R2K (p.Arg2Lys) variant details
- p.Arg2Lys
- ExAC rs766252664
- gnomAD rs766252664
- Uncertain significance
- Thrombophilia due to protein S deficiency, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.62
- CADD 22.50
- PolyPhen-2 0.90
- SIFT 0.15
- ClinVar: Uncertain significance (Thrombophilia due to protein S deficiency, autosomal recessive)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 8.1e-05)