D41G (p.Asp41Gly) variant of OTC (P00480)
D41G (p.Asp41Gly) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
D41G (p.Asp41Gly) variant details
- p.Asp41Gly
- rs74518351
- ClinGen CA224455
- ClinVar RCV000083334
- ClinVar RCV001064676
- Likely pathogenic
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- AlphaMissense 0.93
- MetaLR 0.97
- MetaSVM 1.11
- PolyPhen-2 0.33
- SIFT 0.00
- EVE 0.64
- ClinVar: Likely pathogenic (Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)