T32S (p.Thr32Ser) variant of FTO (Q9C0B1)
T32S (p.Thr32Ser) in FTO (Q9C0B1) is a missense change. Clinical records from ClinVar, EBI, 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 0.34 / 1. The record also includes population frequency data and structural context.
T32S (p.Thr32Ser) variant details
- p.Thr32Ser
- ESP rs373028121
- ExAC rs373028121
- TOPMed rs373028121
- gnomAD rs373028121
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.17
- CADD 20.10
- PolyPhen-2 0.10
- SIFT 0.25
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available