R57Q (p.Arg57Gln) variant of PROC (Vitamin K-dependent protein C)
R57Q (p.Arg57Gln) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
R57Q (p.Arg57Gln) variant details
- p.Arg57Gln
- rs574949343
- UniProt VAR 006644
- 1000Genomes rs574949343
- ExAC rs574949343
- Uncertain significance
- Thrombophilia due to protein C deficiency, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.92
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Thrombophilia due to protein C deficiency, autosomal dominant)
- EBI: Benign (in patients with PROC deficiency)
- UniProt: Benign (in patients with PROC deficiency)
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available