E95Q (p.Glu95Gln) variant of HSPG2 (P98160)
E95Q (p.Glu95Gln) in HSPG2 (P98160) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Inborn genetic diseases; not provided. The record also includes variant effect predictions, population frequency data, and published literature.
E95Q (p.Glu95Gln) variant details
- p.Glu95Gln
- rs145704241
- ClinGen CA673945
- ClinVar RCV001002021
- ClinVar RCV001342125
- Uncertain significance
- not specified; Inborn genetic diseases; not provided
- Missense
- REVEL 0.08
- AlphaMissense 0.07
- MetaLR 0.63
- MetaSVM -0.46
- CADD 12.00
- PolyPhen-2 0.13
- ClinVar: Uncertain significance (not specified; Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence 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)