P4L (p.Pro4Leu) variant of HOGA1 (Q86XE5)
P4L (p.Pro4Leu) in HOGA1 (Q86XE5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P4L (p.Pro4Leu) variant details
- p.Pro4Leu
- ExAC rs756272372
- TOPMed rs756272372
- gnomAD rs756272372
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.56
- MetaSVM -0.38
- CADD 16.84
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available