V10M (p.Val10Met) variant of HOGA1 (Q86XE5)
V10M (p.Val10Met) 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 0.25 / 1. The record also includes population frequency data and structural context.
V10M (p.Val10Met) variant details
- p.Val10Met
- cosmic curated COSV99037
- TOPMed rs1227503188
- gnomAD rs1227503188
- Uncertain significance
- Primary hyperoxaluria type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.19
- ESM-1b 0.38
- AlphaMissense 0.13
- MetaLR 0.51
- MetaSVM -0.41
- CADD 14.87
- 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 7.2e-05)
- Structural context available