A36S (p.Ala36Ser) variant of HOGA1 (Q86XE5)
A36S (p.Ala36Ser) in HOGA1 (Q86XE5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A36S (p.Ala36Ser) variant details
- p.Ala36Ser
- ExAC rs573292460
- TOPMed rs573292460
- gnomAD rs573292460
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.32
- MetaSVM -0.43
- CADD 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available