Q29E (p.Gln29Glu) variant of OTC (P00480)
Q29E (p.Gln29Glu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
Q29E (p.Gln29Glu) variant details
- p.Gln29Glu
- rs752916728
- ClinGen CA10385786
- ClinVar RCV001249000
- ClinVar RCV001511499
- Conflicting interpretations
- Inborn genetic diseases; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.37
- MetaLR 0.83
- MetaSVM 0.23
- CADD 12.50
- PolyPhen-2 0.00
- SIFT 0.68
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 0.00029)
- 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)