L9F (p.Leu9Phe) variant of CYP2C9 (Cytochrome P450 2C9)
L9F (p.Leu9Phe) in CYP2C9 (Cytochrome P450 2C9) 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 0.20 / 1. The record also includes population frequency data and structural context.
L9F (p.Leu9Phe) variant details
- p.Leu9Phe
- NCI-TCGA TCGA novel
- Ensembl rs2031306151
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.03
- CADD 5.42
- PolyPhen-2 0.05
- SIFT 0.27
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available