E31K (p.Glu31Lys) variant of PROC (Vitamin K-dependent protein C)
E31K (p.Glu31Lys) 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 0.23 / 1. The record also includes population frequency data and structural context.
E31K (p.Glu31Lys) variant details
- p.Glu31Lys
- rs779710709
- ClinGen CA1859236
- ClinVar RCV000226874
- ExAC rs779710709
- Uncertain significance
- Thrombophilia due to protein C deficiency, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.29
- CADD 8.62
- PolyPhen-2 0.00
- SIFT 0.95
- ClinVar: Uncertain significance (Thrombophilia due to protein C deficiency, autosomal dominant)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available