E68A (p.Glu68Ala) variant of PROC (Vitamin K-dependent protein C)
E68A (p.Glu68Ala) 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 0.79 / 1. The record also includes population frequency data and structural context.
E68A (p.Glu68Ala) variant details
- p.Glu68Ala
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.88
- CADD 28.50
- 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