V73M (p.Val73Met) variant of HOGA1 (Q86XE5)
V73M (p.Val73Met) in HOGA1 (Q86XE5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
V73M (p.Val73Met) variant details
- p.Val73Met
- 1000Genomes rs547692696
- ExAC rs547692696
- TOPMed rs547692696
- gnomAD rs547692696
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.60
- MetaLR 0.93
- MetaSVM 1.06
- CADD 25.70
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available