W12G (p.Trp12Gly) variant of CYP4F2 (Cytochrome P450 4F2)
W12G (p.Trp12Gly) in CYP4F2 (Cytochrome P450 4F2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
W12G (p.Trp12Gly) variant details
- p.Trp12Gly
- rs3093105
- cosmic curated COSV50000
- UniProt VAR 013117
- 1000Genomes rs3093105
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.18
- CADD 1.39
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.62)
- Structural context available
- Cited in: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID 15489334)
- Cited in: Role of human CYP4F2 in hepatic catabolism of the proinflammatory agent leukotriene B4. (PMID 9799565)