P225Q (p.Pro225Gln) variant of OTC (P00480)
P225Q (p.Pro225Gln) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
P225Q (p.Pro225Gln) variant details
- p.Pro225Gln
- rs67120076
- ClinGen CA412721158
- ClinVar RCV001378599
- Ensembl rs67120076
- Likely pathogenic
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.94
- AlphaMissense 0.54
- MetaLR 0.97
- MetaSVM 1.11
- CADD 23.60
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Population evidence available
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)