L14R (p.Leu14Arg) variant of CYP1A2 (Cytochrome P450 1A2)
L14R (p.Leu14Arg) 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 0.53 / 1. The record also includes population frequency data and structural context.
L14R (p.Leu14Arg) variant details
- p.Leu14Arg
- rs1401787029
- NCI-TCGA Cosmic COSV1006
- gnomAD rs1401787029
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.48
- CADD 24.50
- PolyPhen-2 0.97
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available