R40C (p.Arg40Cys) variant of PROC (Vitamin K-dependent protein C)
R40C (p.Arg40Cys) 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 Thrombophilia due to protein C deficiency, autosomal dominant; Thrombophilia due. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
R40C (p.Arg40Cys) variant details
- p.Arg40Cys
- rs199514227
- ClinGen CA1859243
- cosmic curated COSV52165
- ClinVar RCV001347080
- Uncertain significance
- Thrombophilia due to protein C deficiency, autosomal dominant; Thrombophilia due
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.63
- CADD 23.30
- PolyPhen-2 0.79
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Thrombophilia due to protein C deficiency, autosom)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available