D126E (p.Asp126Glu) variant of OTC (P00480)
D126E (p.Asp126Glu) in OTC (P00480) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of not provided; Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
D126E (p.Asp126Glu) variant details
- p.Asp126Glu
- rs1182076950
- NCI-TCGA Cosmic COSV5000
- gnomAD rs1182076950
- Conflicting interpretations
- not provided; Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.91
- MetaLR 0.99
- MetaSVM 1.06
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Ornithine carbamoyltransferase deficiency)
- UniProt: Conflicting interpretations (in OTCD)
- Population evidence available
- Structural context available