Q362R (p.Gln362Arg) variant of PROS1 (Vitamin K-dependent protein S)
Q362R (p.Gln362Arg) 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 dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature.
Q362R (p.Gln362Arg) variant details
- p.Gln362Arg
- rs2107150039
- ClinGen CA353672233
- ClinVar RCV003484577
- Ensembl rs2107150039
- Likely pathogenic
- Thrombophilia due to protein S deficiency, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- AlphaMissense 0.73
- MetaLR 0.63
- MetaSVM 0.45
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Likely pathogenic (Thrombophilia due to protein S deficiency, autosomal dominant)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: The management of depression during pregnancy: a report from the American Psychiatric Association and the American… (PMID 20027064)