P40H (p.Pro40His) variant of HOGA1 (Q86XE5)
P40H (p.Pro40His) in HOGA1 (Q86XE5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes structural context.
P40H (p.Pro40His) variant details
- p.Pro40His
- rs1173270983
- ClinGen CA377967292
- ClinVar RCV001840929
- TOPMed rs1173270983
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.94
- MetaSVM 1.08
- CADD 28.80
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available