R57Q (p.Arg57Gln) variant of CYP4F2 (Cytochrome P450 4F2)
R57Q (p.Arg57Gln) in CYP4F2 (Cytochrome P450 4F2) 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 0.15 / 1. The record also includes population frequency data and structural context.
R57Q (p.Arg57Gln) variant details
- p.Arg57Gln
- rs868834988
- ClinGen CA305909544
- NCI-TCGA Cosmic COSV5000
- cosmic curated COSV50000
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.13
- CADD 2.80
- PolyPhen-2 0.02
- SIFT 0.14
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available