L42F (p.Leu42Phe) variant of VKORC1 (Q9BQB6)
L42F (p.Leu42Phe) in VKORC1 (Q9BQB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
L42F (p.Leu42Phe) variant details
- p.Leu42Phe
- ExAC rs770660797
- gnomAD rs770660797
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.56
- CADD 23.40
- PolyPhen-2 0.56
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available