R220Q (p.Arg220Gln) variant of PROC (Vitamin K-dependent protein C)
R220Q (p.Arg220Gln) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R220Q (p.Arg220Gln) variant details
- p.Arg220Gln
- rs121918153
- ClinGen CA114412
- cosmic curated COSV52165
- ClinVar RCV000000704
- Uncertain significance
- Thrombophilia due to protein C deficiency, autosomal dominant; Thrombophilia due
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.52
- CADD 15.90
- PolyPhen-2 0.03
- SIFT 0.31
- ClinVar: Uncertain significance (Thrombophilia due to protein C deficiency, autosomal dominant)
- EBI: Pathogenic (in THPH3)
- UniProt: Pathogenic (in THPH3)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Protein C deficiency: identification of a novel two-base pair insertion and two point mutations in exon 7 of the… (PMID 1301954)
- Cited in: Two novel mutations responsible for hereditary type I protein C deficiency: characterization by denaturing gradient gel… (PMID 1301959)