N47T (p.Asn47Thr) variant of OTC (P00480)
N47T (p.Asn47Thr) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not specified; Ornithine carbamoyltransferase deficienc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
N47T (p.Asn47Thr) variant details
- p.Asn47Thr
- rs67939655
- ClinGen CA224463
- ClinVar RCV000083340
- ClinVar RCV000148720
- Conflicting interpretations
- Inborn genetic diseases; not specified; Ornithine carbamoyltransferase deficienc
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.52
- AlphaMissense 0.33
- MetaLR 0.89
- MetaSVM 0.95
- CADD 22.40
- PolyPhen-2 0.61
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not specified; Ornithine carbamoyltrans)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Most common in the Non-Finnish European population (allele frequency 0.00021)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)