L22V (p.Leu22Val) variant of VKORC1 (Q9BQB6)
L22V (p.Leu22Val) in VKORC1 (Q9BQB6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
L22V (p.Leu22Val) variant details
- p.Leu22Val
- ExAC rs759258204
- gnomAD rs759258204
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.58
- CADD 19.60
- PolyPhen-2 0.05
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available