V74A (p.Val74Ala) variant of HOGA1 (Q86XE5)
V74A (p.Val74Ala) in HOGA1 (Q86XE5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes structural context.
V74A (p.Val74Ala) variant details
- p.Val74Ala
- rs796052084
- ClinGen CA377976721
- ClinVar RCV003568971
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.81
- ESM-1b 0.00
- AlphaMissense 0.47
- MetaLR 0.92
- MetaSVM 1.07
- CADD 27.50
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available