D77G (p.Asp77Gly) variant of PROC (Vitamin K-dependent protein C)
D77G (p.Asp77Gly) in PROC (Vitamin K-dependent protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Thrombophilia due to protein C deficiency, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
D77G (p.Asp77Gly) variant details
- p.Asp77Gly
- rs1688085227
- UniProt VAR 073145
- Ensembl rs1688085227
- Conflicting interpretations
- not provided; Thrombophilia due to protein C deficiency, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.82
- CADD 33.00
- PolyPhen-2 0.70
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Thrombophilia due to protein C deficiency, autosom)
- EBI: Pathogenic (in THPH4)
- UniProt: Pathogenic (in THPH4)
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Molecular characterization of p.Asp77Gly and the novel p.Ala163Val and p.Ala163Glu mutations causing protein C… (PMID 25618265)
- Cited in: A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis. (PMID 1511988)