M56T (p.Met56Thr) variant of OTC (P00480)
M56T (p.Met56Thr) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
M56T (p.Met56Thr) variant details
- p.Met56Thr
- rs72554320
- ClinGen CA224487
- ClinVar RCV000083354
- ClinVar RCV000507068
- Likely pathogenic
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.71
- MetaLR 0.89
- MetaSVM 0.96
- CADD 22.50
- PolyPhen-2 0.08
- SIFT 0.00
- ClinVar: Likely pathogenic (not specified)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Population evidence available
- Structural context available
- Cited in: Identification of 'private' mutations in patients with ornithine transcarbamylase deficiency. (PMID 9266388)
- Cited in: Prenatal molecular diagnosis of severe ornithine carbamoyltransferase deficiency due to a novel mutation, E181G. (PMID 10070622)