T47A (p.Thr47Ala) variant of HOGA1 (Q86XE5)
T47A (p.Thr47Ala) in HOGA1 (Q86XE5) 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 0.48 / 1. The record also includes structural context.
T47A (p.Thr47Ala) variant details
- p.Thr47Ala
- TOPMed rs1221444661
- gnomAD rs1221444661
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.36
- ESM-1b 0.82
- AlphaMissense 0.12
- MetaLR 0.78
- MetaSVM 0.44
- CADD 21.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available