R129H (p.Arg129His) variant of OTC (P00480)
R129H (p.Arg129His) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R129H (p.Arg129His) variant details
- p.Arg129His
- rs66656800
- ClinGen CA224568
- NCI-TCGA Cosmic COSV5000
- ClinVar RCV000011757
- Pathogenic
- not provided; Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- REVEL 0.91
- AlphaMissense 0.96
- MetaLR 0.98
- MetaSVM 1.06
- CADD 35.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (not provided; Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Population evidence available
- Structural context available
- Cited in: Demonstration of the spf-ash mutation in Spanish patients with ornithine transcarbamylase deficiency of moderate… (PMID 7860064)
- Cited in: Seven new mutations in the human ornithine transcarbamylase gene. (PMID 7951259)