G71D (p.Gly71Asp) variant of HOGA1 (Q86XE5)
G71D (p.Gly71Asp) in HOGA1 (Q86XE5) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes structural context.
G71D (p.Gly71Asp) variant details
- p.Gly71Asp
- Ensembl rs2041090208
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.946
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.97
- MetaSVM 1.09
- CADD 34.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available