T4P (p.Thr4Pro) variant of FTO (Q9C0B1)
T4P (p.Thr4Pro) 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 0.18 / 1. The record also includes population frequency data and structural context.
T4P (p.Thr4Pro) variant details
- p.Thr4Pro
- ExAC rs752817421
- TOPMed rs752817421
- gnomAD rs752817421
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.16
- CADD 19.10
- PolyPhen-2 0.06
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available