T78M (p.Thr78Met) variant of PROS1 (Vitamin K-dependent protein S)
T78M (p.Thr78Met) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Thrombophilia due to protein S deficiency, autosomal dominant; Thrombophilia due. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and published literature.
T78M (p.Thr78Met) variant details
- p.Thr78Met
- rs6122
- ClinGen CA337558
- ClinVar RCV000197958
- ClinVar RCV000851741
- Conflicting interpretations
- Thrombophilia due to protein S deficiency, autosomal dominant; Thrombophilia due
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.96
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Thrombophilia due to protein S deficiency, autosomal dominant; T)
- EBI: Pathogenic (in THPH5)
- UniProt: Pathogenic (in THPH5)
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Cited in: Protein S Gla-domain mutations causing impaired Ca(2+)-induced phospholipid binding and severe functional protein S… (PMID 12351389)
- Cited in: Identification of 15 different candidate causal point mutations and three polymorphisms in 19 patients with protein S… (PMID 7803790)