D278Y (p.Asp278Tyr) variant of PROS1 (Vitamin K-dependent protein S)
D278Y (p.Asp278Tyr) 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 0.48 / 1. The record also includes published literature and structural context.
D278Y (p.Asp278Tyr) variant details
- p.Asp278Tyr
- rs750744790
- ClinGen CA353672808
- NCI-TCGA Cosmic COSV1012
- Likely pathogenic
- Thrombophilia due to protein S deficiency, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- AlphaMissense 0.16
- MetaLR 0.52
- MetaSVM 0.06
- PolyPhen-2 1.00
- SIFT 0.05
- EVE 0.31
- 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)