E28Q (p.Glu28Gln) variant of SLC6A3 (Q01959)
E28Q (p.Glu28Gln) in SLC6A3 (Q01959) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Parkinsonism-dystonia, infantile; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E28Q (p.Glu28Gln) variant details
- p.Glu28Gln
- rs866199902
- ClinGen CA112969971
- ClinVar RCV002024735
- ClinVar RCV004970814
- Uncertain significance
- Parkinsonism-dystonia, infantile; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.20
- MetaLR 0.30
- MetaSVM -0.65
- CADD 18.20
- PolyPhen-2 0.32
- SIFT 0.18
- ClinVar: Uncertain significance (Parkinsonism-dystonia, infantile; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-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)