F46V (p.Phe46Val) variant of HOGA1 (Q86XE5)
F46V (p.Phe46Val) in HOGA1 (Q86XE5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
F46V (p.Phe46Val) variant details
- p.Phe46Val
- gnomAD 10-97584839-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.90
- MetaLR 0.96
- MetaSVM 1.10
- CADD 27.60
- Population evidence available
- Structural context available
- Literature evidence available