A140V (p.Ala140Val) variant of OTC (P00480)
A140V (p.Ala140Val) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
A140V (p.Ala140Val) variant details
- p.Ala140Val
- rs2147341270
- ClinGen CA412723092
- ClinVar RCV001977988
- ClinVar RCV004690210
- Conflicting interpretations
- Ornithine carbamoyltransferase deficiency; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.82
- MetaLR 0.95
- MetaSVM 1.10
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.11
- ClinVar: Conflicting classifications of pathogenicity (Ornithine carbamoyltransferase deficiency; not specified)
- EBI: Likely pathogenic (in OTCD)
- UniProt: Likely pathogenic (in OTCD)
- Population evidence available
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)