E27Q (p.Glu27Gln) variant of SLC6A19 (Q695T7)
E27Q (p.Glu27Gln) in SLC6A19 (Q695T7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
E27Q (p.Glu27Gln) variant details
- p.Glu27Gln
- rs150662417
- ClinGen CA112928343
- ClinVar RCV002855094
- ESP rs150662417
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.17
- ESM-1b 1.00
- AlphaMissense 0.07
- CADD 0.43
- PolyPhen-2 0.01
- SIFT 0.11
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- 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)