K52R (p.Lys52Arg) variant of CYP2C8 (Cytochrome P450 2C8)
K52R (p.Lys52Arg) in CYP2C8 (Cytochrome P450 2C8) 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 0.26 / 1. The record also includes population frequency data and structural context.
K52R (p.Lys52Arg) variant details
- p.Lys52Arg
- rs748678162
- ClinGen CA5617931
- ClinVar RCV004367919
- ExAC rs748678162
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.15
- CADD 12.40
- PolyPhen-2 0.05
- SIFT 0.07
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00038)
- Structural context available