A208T (p.Ala208Thr) variant of OTC (P00480)
A208T (p.Ala208Thr) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; Likely inborn error of metabolism; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
A208T (p.Ala208Thr) variant details
- p.Ala208Thr
- rs72558416
- ClinGen CA224716
- NCI-TCGA Cosmic COSV5000
- ClinVar RCV000083517
- Pathogenic
- Inborn genetic diseases; Likely inborn error of metabolism; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.90
- MetaLR 0.98
- MetaSVM 1.09
- CADD 23.40
- PolyPhen-2 0.95
- SIFT 0.04
- ClinVar: Pathogenic (Inborn genetic diseases; Likely inborn error of metabolism; not)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available
- Cited in: Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by… (PMID 9007316)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)