V45L (p.Val45Leu) variant of VKORC1 (Q9BQB6)
V45L (p.Val45Leu) in VKORC1 (Q9BQB6) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in CMRES. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
V45L (p.Val45Leu) variant details
- p.Val45Leu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- in CMRES
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.44
- CADD 21.30
- PolyPhen-2 0.15
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact. (in CMRES)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available