G50A (p.Gly50Ala) variant of OTC (P00480)
G50A (p.Gly50Ala) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
G50A (p.Gly50Ala) variant details
- p.Gly50Ala
- rs201802621
- ClinGen CA10385794
- ClinVar RCV001435038
- ExAC rs201802621
- Conflicting interpretations
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.39
- MetaLR 0.67
- MetaSVM 0.25
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Ornithine carbamoyltransferase deficiency)
- EBI: Likely benign (in OTCD)
- UniProt: Likely benign (in OTCD)
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)