G50E (p.Gly50Glu) variant of OTC (P00480)
G50E (p.Gly50Glu) in OTC (P00480) is a missense change. Clinical records from EBI and UniProt describe it as likely benign in the context of in OTCD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
G50E (p.Gly50Glu) variant details
- p.Gly50Glu
- ExAC rs201802621
- TOPMed rs201802621
- gnomAD rs201802621
- Likely benign
- in OTCD
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.54
- MetaLR 0.77
- MetaSVM 0.65
- CADD 19.60
- PolyPhen-2 0.17
- SIFT 0.47
- EBI: Likely benign (in OTCD)
- UniProt: Likely benign (in OTCD)
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available