L22F (p.Leu22Phe) variant of VKORC1 (Q9BQB6)
L22F (p.Leu22Phe) in VKORC1 (Q9BQB6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
L22F (p.Leu22Phe) variant details
- p.Leu22Phe
- rs759258204
- ClinGen CA8021308
- ClinVar RCV003426679
- ExAC rs759258204
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.70
- CADD 23.30
- PolyPhen-2 0.88
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available