R52Q (p.Arg52Gln) variant of FTO (Q9C0B1)
R52Q (p.Arg52Gln) in FTO (Q9C0B1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
R52Q (p.Arg52Gln) variant details
- p.Arg52Gln
- cosmic curated COSV10114
- ExAC rs755828209
- TOPMed rs755828209
- gnomAD rs755828209
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.37
- CADD 24.60
- PolyPhen-2 0.97
- SIFT 0.11
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00026)
- Structural context available