A36E (p.Ala36Glu) variant of HOGA1 (Q86XE5)
A36E (p.Ala36Glu) in HOGA1 (Q86XE5) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
A36E (p.Ala36Glu) variant details
- p.Ala36Glu
- ExAC rs201803986
- TOPMed rs201803986
- gnomAD rs201803986
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.21
- MetaLR 0.50
- MetaSVM -0.63
- CADD 18.35
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available