V73L (p.Val73Leu) variant of HOGA1 (Q86XE5)
V73L (p.Val73Leu) in HOGA1 (Q86XE5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
V73L (p.Val73Leu) variant details
- p.Val73Leu
- 1000Genomes rs547692696
- ExAC rs547692696
- TOPMed rs547692696
- gnomAD rs547692696
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.43
- MetaLR 0.85
- MetaSVM 0.81
- CADD 20.70
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available