V24L (p.Val24Leu) variant of HOGA1 (Q86XE5)
V24L (p.Val24Leu) 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 0.33 / 1. The record also includes population frequency data and structural context.
V24L (p.Val24Leu) variant details
- p.Val24Leu
- ESP rs368335660
- ExAC rs368335660
- TOPMed rs368335660
- gnomAD rs368335660
- Uncertain significance
- Primary hyperoxaluria type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.57
- MetaSVM -0.40
- CADD 4.40
- ClinVar: Uncertain significance (Primary hyperoxaluria type 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available