G39A (p.Gly39Ala) variant of OTC (P00480)
G39A (p.Gly39Ala) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
G39A (p.Gly39Ala) variant details
- p.Gly39Ala
- rs1602014500
- ClinGen CA412715920
- ClinVar RCV001170078
- Ensembl rs1602014500
- Pathogenic
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- AlphaMissense 0.40
- MetaLR 0.93
- MetaSVM 1.14
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.50
- ClinVar: Pathogenic (Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)