I49M (p.Ile49Met) variant of VKORC1 (Q9BQB6)
I49M (p.Ile49Met) in VKORC1 (Q9BQB6) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
I49M (p.Ile49Met) variant details
- p.Ile49Met
- TOPMed rs2057314842
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.80
- CADD 24.00
- PolyPhen-2 0.66
- SIFT 0.17
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available