R41C (p.Arg41Cys) variant of PROS1 (Vitamin K-dependent protein S)
R41C (p.Arg41Cys) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Thrombophilia due to protein S deficiency, autosomal recessive; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data.
R41C (p.Arg41Cys) variant details
- p.Arg41Cys
- rs768994686
- ClinGen CA2503587
- ClinVar RCV003480121
- ClinVar RCV005100299
- Conflicting interpretations
- Thrombophilia due to protein S deficiency, autosomal recessive; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.86
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Thrombophilia due to protein S deficiency, autosomal recessive;)
- EBI: Likely pathogenic (in THPH5)
- UniProt: Likely pathogenic (in THPH5)
- Most common in the East Asian population (allele frequency 2.5e-05)