E62A (p.Glu62Ala) variant of AGXT (P21549)
E62A (p.Glu62Ala) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E62A (p.Glu62Ala) variant details
- p.Glu62Ala
- ExAC rs773078356
- TOPMed rs773078356
- gnomAD rs773078356
- Uncertain significance
- Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 18.20
- PolyPhen-2 0.03
- SIFT 0.85
- ClinVar: Uncertain significance (Primary hyperoxaluria, type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 5.4e-05)
- Structural context available
- AGXT complementation assay *1 B: score 0.947