L44V (p.Leu44Val) variant of CYP2B6 (Cytochrome P450 2B6)
L44V (p.Leu44Val) in CYP2B6 (Cytochrome P450 2B6) 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 0.42 / 1. The record also includes population frequency data and structural context.
L44V (p.Leu44Val) variant details
- p.Leu44Val
- rs771501582
- ClinGen CA9455050
- ClinVar RCV004155692
- ExAC rs771501582
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.38
- MetaLR 0.50
- MetaSVM -0.21
- CADD 20.90
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available