R90H (p.Arg90His) variant of PROS1 (Vitamin K-dependent protein S)
R90H (p.Arg90His) 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 0.61 / 1. The record also includes population frequency data and published literature.
R90H (p.Arg90His) variant details
- p.Arg90His
- rs200886866
- ClinGen CA2503526
- ClinVar RCV001213586
- UniProt VAR 046815
- Uncertain significance
- Thrombophilia due to protein S deficiency, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.64
- CADD 21.50
- PolyPhen-2 0.29
- SIFT 0.06
- ClinVar: Uncertain significance (Thrombophilia due to protein S deficiency, autosomal recessive)
- EBI: Pathogenic (in THPH5)
- UniProt: Pathogenic (in THPH5)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Cited in: Identification of 15 different candidate causal point mutations and three polymorphisms in 19 patients with protein S… (PMID 7803790)
- Cited in: Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III… (PMID 10447256)