E18Q (p.Glu18Gln) variant of SHANK1 (Q9Y566)
E18Q (p.Glu18Gln) in SHANK1 (Q9Y566) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E18Q (p.Glu18Gln) variant details
- p.Glu18Gln
- rs200002234
- ClinGen CA406999264
- ClinVar RCV003261429
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.03
- MetaLR 0.05
- MetaSVM -1.05
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.18
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)