T44I (p.Thr44Ile) variant of HOGA1 (Q86XE5)
T44I (p.Thr44Ile) in HOGA1 (Q86XE5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary hyperoxaluria type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
T44I (p.Thr44Ile) variant details
- p.Thr44Ile
- ExAC rs775876371
- gnomAD rs775876371
- Uncertain significance
- Primary hyperoxaluria type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.62
- MetaLR 0.97
- MetaSVM 1.09
- CADD 28.50
- ClinVar: Uncertain significance (Primary hyperoxaluria type 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available