Y54N (p.Tyr54Asn) variant of HOGA1 (Q86XE5)
Y54N (p.Tyr54Asn) in HOGA1 (Q86XE5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
Y54N (p.Tyr54Asn) variant details
- p.Tyr54Asn
- TOPMed rs954248865
- gnomAD rs954248865
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.40
- MetaLR 0.90
- MetaSVM 1.00
- CADD 28.80
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available