G39D (p.Gly39Asp) variant of OTC (P00480)
G39D (p.Gly39Asp) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
G39D (p.Gly39Asp) variant details
- p.Gly39Asp
- rs1602014500
- ClinGen CA412715916
- ClinVar RCV000810594
- ClinVar RCV001201208
- Conflicting interpretations
- not specified; not provided; Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.83
- AlphaMissense 0.40
- MetaLR 0.93
- MetaSVM 1.14
- CADD 24.80
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Ornithine carbamoyltransferase defi)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Population evidence available
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)