E68K (p.Glu68Lys) variant of PROC (Vitamin K-dependent protein C)
E68K (p.Glu68Lys) in PROC (Vitamin K-dependent protein C) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
E68K (p.Glu68Lys) variant details
- p.Glu68Lys
- NCI-TCGA Cosmic COSV5216
- cosmic curated COSV52166
- TOPMed rs1352609136
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.92
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available