G13A (p.Gly13Ala) variant of HOGA1 (Q86XE5)
G13A (p.Gly13Ala) 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 0.32 / 1. The record also includes structural context.
G13A (p.Gly13Ala) variant details
- p.Gly13Ala
- gnomAD rs1056874645
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.64
- MetaSVM -0.16
- CADD 16.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available