R42S (p.Arg42Ser) variant of PROC (Vitamin K-dependent protein C)
R42S (p.Arg42Ser) in PROC (Vitamin K-dependent protein C) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in THPH3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R42S (p.Arg42Ser) variant details
- p.Arg42Ser
- rs774572099
- UniProt VAR 055074
- ExAC rs774572099
- TOPMed rs774572099
- Pathogenic
- in THPH3
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.84
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic (in THPH3)
- UniProt: Pathogenic (in THPH3)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Protein C Osaka 10 with aberrant propeptide processing: loss of anticoagulant activity due to an amino acid… (PMID 8560401)
- Cited in: Two novel mutations responsible for hereditary type I protein C deficiency: characterization by denaturing gradient gel… (PMID 1301959)