R211Q (p.Arg211Gln) variant of PROC (Vitamin K-dependent protein C)
R211Q (p.Arg211Gln) in PROC (Vitamin K-dependent protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R211Q (p.Arg211Gln) variant details
- p.Arg211Gln
- rs199469476
- ClinGen CA55348396
- NCI-TCGA Cosmic COSV5216
- cosmic curated COSV52167
- Pathogenic/Likely pathogenic
- not provided; Thrombophilia due to protein C deficiency, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.51
- CADD 23.90
- PolyPhen-2 0.91
- SIFT 0.06
- ClinVar: Pathogenic/Likely pathogenic (not provided; Thrombophilia due to protein C deficiency, autosom)
- EBI: Pathogenic (in patients with PROC deficiency)
- UniProt: Pathogenic (in patients with PROC deficiency)
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: Genetic background analysis of protein C deficiency demonstrates a recurrent mutation associated with venous thrombosis… (PMID 22545135)
- Cited in: Twelve novel and two recurrent mutations in 14 Austrian families with hereditary protein C deficiency. (PMID 8499565)