R40C (p.Arg40Cys) variant of PROS1 (Vitamin K-dependent protein S)
R40C (p.Arg40Cys) 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 Thrombophilia due to protein S deficiency, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data.
R40C (p.Arg40Cys) variant details
- p.Arg40Cys
- rs772628286
- ClinGen CA2503590
- ClinVar RCV003642858
- ExAC rs772628286
- Uncertain significance
- Thrombophilia due to protein S deficiency, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.84
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Thrombophilia due to protein S deficiency, autosomal recessive)
- EBI: Variant of uncertain significance (in THPH5)
- UniProt: Uncertain significance (in THPH5)
- Most common in the African/African-American population (allele frequency 2.4e-05)