N21Y (p.Asn21Tyr) variant of HOGA1 (Q86XE5)
N21Y (p.Asn21Tyr) in HOGA1 (Q86XE5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary hyperoxaluria type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
N21Y (p.Asn21Tyr) variant details
- p.Asn21Tyr
- ExAC rs747588198
- gnomAD rs747588198
- Uncertain significance
- Primary hyperoxaluria type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.69
- MetaSVM 0.08
- CADD 20.30
- ClinVar: Uncertain significance (Primary hyperoxaluria type 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available