P4H (p.Pro4His) variant of HOGA1 (Q86XE5)
P4H (p.Pro4His) 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.
P4H (p.Pro4His) variant details
- p.Pro4His
- ExAC rs756272372
- TOPMed rs756272372
- gnomAD rs756272372
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.56
- MetaSVM -0.37
- CADD 16.95
- Most common in the HGDP:TUSCAN population (allele frequency 0.12)
- Structural context available