K63Q (p.Lys63Gln) variant of HOGA1 (Q86XE5)
K63Q (p.Lys63Gln) 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 0.41 / 1. The record also includes population frequency data and structural context.
K63Q (p.Lys63Gln) variant details
- p.Lys63Gln
- TOPMed rs968208573
- gnomAD rs968208573
- Uncertain significance
- Primary hyperoxaluria type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.72
- MetaSVM 0.47
- CADD 23.80
- ClinVar: Uncertain significance (Primary hyperoxaluria type 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available