Q43H (p.Gln43His) variant of FTO (Q9C0B1)
Q43H (p.Gln43His) 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 0.38 / 1. The record also includes population frequency data and structural context.
Q43H (p.Gln43His) variant details
- p.Gln43His
- ExAC rs778691805
- TOPMed rs778691805
- gnomAD rs778691805
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.17
- CADD 15.80
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available