T32A (p.Thr32Ala) variant of FTO (Q9C0B1)
T32A (p.Thr32Ala) in FTO (Q9C0B1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
T32A (p.Thr32Ala) variant details
- p.Thr32Ala
- ESP rs373028121
- ExAC rs373028121
- TOPMed rs373028121
- gnomAD rs373028121
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.16
- CADD 22.10
- PolyPhen-2 0.44
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00042)
- Structural context available