A8E (p.Ala8Glu) variant of HSPG2 (P98160)
A8E (p.Ala8Glu) in HSPG2 (P98160) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The record also includes variant effect predictions, population frequency data, and published literature.
A8E (p.Ala8Glu) variant details
- p.Ala8Glu
- rs1431679446
- ClinGen CA338910035
- ClinVar RCV001954199
- ClinVar RCV005854139
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- REVEL 0.17
- CADD 13.60
- PolyPhen-2 0.05
- SIFT 1.00
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- 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)