V6F (p.Val6Phe) variant of CYP2C9 (Cytochrome P450 2C9)
V6F (p.Val6Phe) in CYP2C9 (Cytochrome P450 2C9) is a missense change. Clinical records from ClinVar, EBI, 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 0.19 / 1. The record also includes population frequency data and structural context.
V6F (p.Val6Phe) variant details
- p.Val6Phe
- TOPMed rs1312272026
- gnomAD rs1312272026
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.05
- CADD 0.21
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available