Q94K (p.Gln94Lys) variant of CYP2A6 (Cytochrome P450 2A6)
Q94K (p.Gln94Lys) 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 0.32 / 1. The record also includes population frequency data and structural context.
Q94K (p.Gln94Lys) variant details
- p.Gln94Lys
- rs577267650
- ClinGen CA9453204
- ClinVar RCV004301292
- 1000Genomes rs577267650
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.10
- CADD 14.40
- PolyPhen-2 0.10
- SIFT 0.17
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available