G162A (p.Gly162Ala) variant of OTC (P00480)
G162A (p.Gly162Ala) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
G162A (p.Gly162Ala) variant details
- p.Gly162Ala
- rs72556272
- ClinGen CA412723640
- ClinVar RCV001951887
- ClinVar RCV004731199
- Conflicting interpretations
- not specified; Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.81
- AlphaMissense 0.95
- MetaLR 0.98
- MetaSVM 1.03
- CADD 22.50
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)