G188R (p.Gly188Arg) variant of OTC (P00480)
G188R (p.Gly188Arg) 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 0.83 / 1. The record also includes published literature and structural context.
G188R (p.Gly188Arg) variant details
- p.Gly188Arg
- rs72556294
- ClinGen CA224680
- ClinVar RCV000083489
- ClinVar RCV005887687
- Likely pathogenic
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- AlphaMissense 0.66
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.53
- ClinVar: Likely pathogenic (Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Structural context available
- Cited in: Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine… (PMID 8807340)
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)