Q36E (p.Gln36Glu) variant of OTC (P00480)
Q36E (p.Gln36Glu) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
Q36E (p.Gln36Glu) variant details
- p.Gln36Glu
- ExAC rs72554305
- gnomAD rs72554305
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.34
- AlphaMissense 0.08
- MetaLR 0.80
- MetaSVM 0.24
- CADD 7.98
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available