R129C (p.Arg129Cys) variant of OTC (P00480)
R129C (p.Arg129Cys) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided; Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R129C (p.Arg129Cys) variant details
- p.Arg129Cys
- rs140046498
- ClinGen CA272936
- NCI-TCGA Cosmic COSV9923
- Uncertain significance
- not specified; not provided; Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.91
- MetaLR 0.98
- MetaSVM 1.06
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.02
- ClinVar: Uncertain significance (not specified; not provided; Ornithine carbamoyltransferase defi)
- EBI: Variant of uncertain significance (in OTCD)
- UniProt: Uncertain significance (in OTCD)
- Most common in the African/African-American population (allele frequency 0.0003)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)