L70V (p.Leu70Val) variant of VKORC1 (Q9BQB6)
L70V (p.Leu70Val) in VKORC1 (Q9BQB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
L70V (p.Leu70Val) variant details
- p.Leu70Val
- 1000Genomes rs202194968
- TOPMed rs202194968
- gnomAD rs202194968
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.63
- CADD 22.50
- PolyPhen-2 1.00
- SIFT 0.41
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available