D376N (p.Asp376Asn) variant of PROS1 (Vitamin K-dependent protein S)
D376N (p.Asp376Asn) 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 Protein S deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes published literature.
D376N (p.Asp376Asn) variant details
- p.Asp376Asn
- rs1437372036
- ClinGen CA353671938
- ClinVar RCV000851991
- ClinVar RCV004731031
- Likely pathogenic
- Protein S deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- AlphaMissense 0.06
- MetaLR 0.13
- MetaSVM -0.99
- PolyPhen-2 0.00
- SIFT 0.15
- EVE 0.09
- ClinVar: Likely pathogenic (Protein S deficiency disease)
- EBI: Pathogenic (in THPH5)
- UniProt: Pathogenic (in THPH5)
- Cited in: Identification of 15 different candidate causal point mutations and three polymorphisms in 19 patients with protein S… (PMID 7803790)
- Cited in: Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III… (PMID 10447256)