M92V (p.Met92Val) variant of CYP4F2 (Cytochrome P450 4F2)
M92V (p.Met92Val) in CYP4F2 (Cytochrome P450 4F2) 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 0.18 / 1. The record also includes population frequency data and structural context.
M92V (p.Met92Val) variant details
- p.Met92Val
- ExAC rs745455806
- TOPMed rs745455806
- gnomAD rs745455806
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.27
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available