L14Q (p.Leu14Gln) variant of HOGA1 (Q86XE5)
L14Q (p.Leu14Gln) 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 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L14Q (p.Leu14Gln) variant details
- p.Leu14Gln
- rs771766335
- ClinGen CA5633812
- ClinVar RCV003447352
- ExAC rs771766335
- Uncertain significance
- Primary hyperoxaluria type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.41
- ESM-1b 1.00
- AlphaMissense 0.09
- MetaLR 0.80
- MetaSVM 0.68
- CADD 18.71
- ClinVar: Uncertain significance (Primary hyperoxaluria type 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Primary Hyperoxaluria Type 3. (PMID 26401545)