L7F (p.Leu7Phe) variant of CYP2A6 (Cytochrome P450 2A6)
L7F (p.Leu7Phe) in CYP2A6 (Cytochrome P450 2A6) 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 0.38 / 1. The record also includes population frequency data and structural context.
L7F (p.Leu7Phe) variant details
- p.Leu7Phe
- rs149703281
- ClinGen CA9453312
- ClinVar RCV004087922
- ESP rs149703281
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.24
- CADD 14.50
- PolyPhen-2 0.73
- SIFT 0.28
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available