E67A (p.Glu67Ala) variant of PROS1 (Vitamin K-dependent protein S)
E67A (p.Glu67Ala) 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.
E67A (p.Glu67Ala) variant details
- p.Glu67Ala
- rs766423432
- ClinGen CA2503575
- ClinVar RCV001216716
- ClinVar RCV002222676
- Conflicting interpretations
- Thrombophilia due to protein S deficiency, autosomal dominant; Thrombophilia due
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.96
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.01
- 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 East Asian population (allele frequency 0.00039)
- Cited in: Poor relationship between phenotypes of protein S deficiency and mutations in the protein S alpha gene. (PMID 10613647)
- Cited in: Molecular diversity and thrombotic risk in protein S deficiency: the PROSIT study. (PMID 15712227)