E109K (p.Glu109Lys) variant of SHANK1 (Q9Y566)
E109K (p.Glu109Lys) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E109K (p.Glu109Lys) variant details
- p.Glu109Lys
- rs752386801
- ClinGen CA9602185
- ClinVar RCV003271723
- ExAC rs752386801
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.16
- MetaLR 0.04
- MetaSVM -1.11
- CADD 26.00
- PolyPhen-2 0.56
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)