F635S (p.Phe635Ser) variant of PROS1 (Vitamin K-dependent protein S)
F635S (p.Phe635Ser) 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 0.53 / 1. The record also includes published literature and structural context.
F635S (p.Phe635Ser) variant details
- p.Phe635Ser
- rs2107120174
- ClinGen CA353670035
- ClinVar RCV001729860
- Ensembl rs2107120174
- Likely pathogenic
- Thrombophilia due to protein S deficiency, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- AlphaMissense 0.42
- MetaLR 0.55
- MetaSVM 0.06
- PolyPhen-2 0.96
- SIFT 0.03
- EVE 0.34
- ClinVar: Likely pathogenic (Thrombophilia due to protein S deficiency, autosomal dominant)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: The management of depression during pregnancy: a report from the American Psychiatric Association and the American… (PMID 20027064)