I43L (p.Ile43Leu) variant of CYP2A6 (Cytochrome P450 2A6)
I43L (p.Ile43Leu) in CYP2A6 (Cytochrome P450 2A6) is a missense change. Clinical records from ClinVar 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 0.12 / 1. The record also includes population frequency data and structural context.
I43L (p.Ile43Leu) variant details
- p.Ile43Leu
- rs747479415
- ExAC rs747479415
- TOPMed rs747479415
- gnomAD rs747479415
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.07
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.85
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00017)
- Structural context available