T47P (p.Thr47Pro) variant of HOGA1 (Q86XE5)
T47P (p.Thr47Pro) in HOGA1 (Q86XE5) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
T47P (p.Thr47Pro) variant details
- p.Thr47Pro
- rs1221444661
- ClinGen CA377967331
- ClinVar RCV001068879
- ClinVar RCV001827454
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.64
- ESM-1b 1.00
- AlphaMissense 0.36
- MetaLR 0.88
- MetaSVM 0.80
- CADD 28.40
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Primary Hyperoxaluria Type 3. (PMID 26401545)