R40H (p.Arg40His) variant of PROS1 (Vitamin K-dependent protein S)
R40H (p.Arg40His) 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 dominant; Thrombophilia due. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and published literature.
R40H (p.Arg40His) variant details
- p.Arg40His
- rs7614835
- ClinGen CA2503589
- ClinVar RCV001299079
- ClinVar RCV002493575
- Uncertain significance
- Thrombophilia due to protein S deficiency, autosomal dominant; Thrombophilia due
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.77
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Thrombophilia due to protein S deficiency, autosomal dominant; T)
- EBI: Benign (in THPH5)
- UniProt: Benign (in THPH5)
- Most common in the Latino/Admixed American population (allele frequency 0.0018)
- Cited in: The management of depression during pregnancy: a report from the American Psychiatric Association and the American… (PMID 20027064)