C228W (p.Cys228Trp) variant of PROS1 (Vitamin K-dependent protein S)
C228W (p.Cys228Trp) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
C228W (p.Cys228Trp) variant details
- p.Cys228Trp
- rs377173471
- ClinGen CA353673158
- ClinVar RCV003447747
- ClinVar RCV004790566
- Likely pathogenic
- Thrombophilia due to protein S deficiency, autosomal dominant; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.81
- CADD 21.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Thrombophilia due to protein S deficiency, autosomal dominant; n)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: The management of depression during pregnancy: a report from the American Psychiatric Association and the American… (PMID 20027064)