D126G (p.Asp126Gly) variant of OTC (P00480)
D126G (p.Asp126Gly) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 population frequency data, published literature, and structural context.
D126G (p.Asp126Gly) variant details
- p.Asp126Gly
- rs72554358
- ClinGen CA224564
- ClinVar RCV000083410
- ClinVar RCV005252744
- Uncertain significance
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.98
- MetaLR 0.99
- MetaSVM 0.96
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Uncertain significance (Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Population evidence available
- Structural context available
- Cited in: Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male… (PMID 8081398)
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)