Q48E (p.Gln48Glu) variant of GNAT1 (P11488)
Q48E (p.Gln48Glu) in GNAT1 (P11488) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. 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.
Q48E (p.Gln48Glu) variant details
- p.Gln48Glu
- rs749921670
- ClinGen CA2412458
- ClinVar RCV001910851
- ClinVar RCV004988861
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.85
- CADD 24.60
- PolyPhen-2 0.76
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- 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)