G7D (p.Gly7Asp) variant of HSPG2 (P98160)
G7D (p.Gly7Asp) 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.
G7D (p.Gly7Asp) variant details
- p.Gly7Asp
- rs2152809591
- ClinGen CA338910046
- ClinVar RCV002705230
- ClinVar RCV004983087
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- REVEL 0.28
- CADD 16.30
- PolyPhen-2 0.06
- SIFT 0.24
- 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)