G13V (p.Gly13Val) variant of HOGA1 (Q86XE5)
G13V (p.Gly13Val) 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 0.48 / 1. The record also includes population frequency data and structural context.
G13V (p.Gly13Val) variant details
- p.Gly13Val
- gnomAD rs1056874645
- Uncertain significance
- Primary hyperoxaluria type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.45
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.81
- MetaSVM 0.64
- CADD 17.90
- ClinVar: Uncertain significance (Primary hyperoxaluria type 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available