M46V (p.Met46Val) variant of CYP2B6 (Cytochrome P450 2B6)
M46V (p.Met46Val) in CYP2B6 (Cytochrome P450 2B6) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in allele CYP2B6*11. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
M46V (p.Met46Val) variant details
- p.Met46Val
- rs35303484
- UniProt VAR 023564
- 1000Genomes rs35303484
- ESP rs35303484
- Benign
- in allele CYP2B6*11
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.09
- MetaLR 0.00
- MetaSVM -0.45
- CADD 9.29
- PolyPhen-2 0.22
- SIFT 0.43
- EBI: Benign (in allele CYP2B6*11)
- UniProt: Benign (in allele CYP2B6*11)
- Most common in the HGDP:MAYA population (allele frequency 0.026)
- Structural context available
- Cited in: Multiple novel nonsynonymous CYP2B6 gene polymorphisms in Caucasians: demonstration of phenotypic null alleles. (PMID 15190123)