L20F (p.Leu20Phe) variant of CYP2A6 (Cytochrome P450 2A6)
L20F (p.Leu20Phe) in CYP2A6 (Cytochrome P450 2A6) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
L20F (p.Leu20Phe) variant details
- p.Leu20Phe
- rs746024795
- NCI-TCGA Cosmic COSV5653
- ExAC rs746024795
- gnomAD rs746024795
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.05
- CADD 7.12
- PolyPhen-2 0.10
- SIFT 0.34
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available