E103K (p.Glu103Lys) variant of CYP2A6 (Cytochrome P450 2A6)
E103K (p.Glu103Lys) 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 0.17 / 1. The record also includes population frequency data and structural context.
E103K (p.Glu103Lys) variant details
- p.Glu103Lys
- rs1355151029
- NCI-TCGA Cosmic COSV5653
- TOPMed rs1355151029
- gnomAD rs1355151029
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.04
- CADD 0.77
- PolyPhen-2 0.00
- SIFT 0.64
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 5.2e-05)
- Structural context available