E29K (p.Glu29Lys) variant of HOGA1 (Q86XE5)
E29K (p.Glu29Lys) 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 0.36 / 1. The record also includes population frequency data and structural context.
E29K (p.Glu29Lys) variant details
- p.Glu29Lys
- ExAC rs764274149
- gnomAD rs764274149
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.57
- MetaSVM -0.55
- CADD 13.50
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00013)
- Structural context available