R515P (p.Arg515Pro) variant of PROS1 (Vitamin K-dependent protein S)
R515P (p.Arg515Pro) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Thrombophilia due to protein S deficiency, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
R515P (p.Arg515Pro) variant details
- p.Arg515Pro
- rs769700380
- ClinGen CA353672066
- ClinVar RCV002651715
- UniProt VAR 046866
- Likely pathogenic
- Thrombophilia due to protein S deficiency, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- AlphaMissense 0.23
- MetaLR 0.55
- MetaSVM 0.01
- PolyPhen-2 0.07
- SIFT 0.04
- EVE 0.47
- ClinVar: Likely pathogenic (Thrombophilia due to protein S deficiency, autosomal recessive)
- EBI: Pathogenic (in THPH5)
- UniProt: Pathogenic (in THPH5)
- Structural context available
- Cited in: Poor relationship between phenotypes of protein S deficiency and mutations in the protein S alpha gene. (PMID 10613647)
- Cited in: Molecular diversity and thrombotic risk in protein S deficiency: the PROSIT study. (PMID 15712227)