V52M (p.Val52Met) variant of HOGA1 (Q86XE5)
V52M (p.Val52Met) in HOGA1 (Q86XE5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
V52M (p.Val52Met) variant details
- p.Val52Met
- TOPMed rs1471857178
- gnomAD rs1471857178
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.55
- MetaLR 0.92
- MetaSVM 1.04
- CADD 27.20
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available