R38W (p.Arg38Trp) variant of PROC (Vitamin K-dependent protein C)
R38W (p.Arg38Trp) in PROC (Vitamin K-dependent protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R38W (p.Arg38Trp) variant details
- p.Arg38Trp
- rs769900251
- ClinGen CA1859241
- ClinVar RCV001727153
- ClinVar RCV002543888
- Uncertain significance
- not provided; Thrombophilia due to protein C deficiency, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.78
- CADD 24.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Thrombophilia due to protein C deficiency, autosom)
- EBI: Benign (in patients with PROC deficiency)
- UniProt: Benign (in patients with PROC deficiency)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Five novel mutations located in exons III and IX of the protein C gene in patients presenting with defective protein C… (PMID 8324221)