A209G (p.Ala209Gly) variant of OTC (P00480)
A209G (p.Ala209Gly) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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, published literature, and structural context.
A209G (p.Ala209Gly) variant details
- p.Ala209Gly
- rs72558417
- ClinGen CA10385899
- ClinVar RCV000489120
- ClinVar RCV001829398
- Uncertain significance
- not provided; Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.84
- AlphaMissense 0.31
- MetaLR 0.97
- MetaSVM 1.11
- CADD 23.10
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided; Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Most common in the Non-Finnish European population (allele frequency 0.00017)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)