M205R (p.Met205Arg) variant of OTC (P00480)
M205R (p.Met205Arg) 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 0.95 / 1. The record also includes published literature and structural context.
M205R (p.Met205Arg) variant details
- p.Met205Arg
- rs2068501940
- ClinGen CA412725664
- ClinVar RCV003486178
- Uncertain significance
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.947
- AlphaMissense 0.96
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.05
- EVE 0.84
- ClinVar: Uncertain significance (Ornithine carbamoyltransferase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)