G52R (p.Gly52Arg) variant of PROS1 (Vitamin K-dependent protein S)
G52R (p.Gly52Arg) 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 0.90 / 1. The record also includes published literature.
G52R (p.Gly52Arg) variant details
- p.Gly52Arg
- rs2107202922
- ClinGen CA353674586
- ClinVar RCV001801308
- Ensembl rs2107202922
- Likely pathogenic
- Thrombophilia due to protein S deficiency, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- AlphaMissense 0.84
- MetaLR 1.00
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Likely pathogenic (Thrombophilia due to protein S deficiency, autosomal dominant)
- EBI: Likely pathogenic (in THPH5)
- UniProt: Likely pathogenic (in THPH5)
- Cited in: The management of depression during pregnancy: a report from the American Psychiatric Association and the American… (PMID 20027064)