T4A (p.Thr4Ala) variant of FTO (Q9C0B1)
T4A (p.Thr4Ala) in FTO (Q9C0B1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
T4A (p.Thr4Ala) variant details
- p.Thr4Ala
- rs752817421
- ClinGen CA8058256
- ClinVar RCV001877464
- ExAC rs752817421
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.10
- CADD 16.50
- PolyPhen-2 0.01
- SIFT 0.21
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available