P8L (p.Pro8Leu) variant of CYP1A2 (Cytochrome P450 1A2)
P8L (p.Pro8Leu) in CYP1A2 (Cytochrome P450 1A2) 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 0.16 / 1. The record also includes population frequency data and structural context.
P8L (p.Pro8Leu) variant details
- p.Pro8Leu
- NCI-TCGA Cosmic COSV5965
- gnomAD rs1477139859
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.08
- CADD 14.50
- PolyPhen-2 0.03
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 4e-05)
- Structural context available