D68E (p.Asp68Glu) variant of HSPG2 (P98160)
D68E (p.Asp68Glu) in HSPG2 (P98160) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided; Lethal Kniest-like syndrome. The record also includes variant effect predictions and population frequency data.
D68E (p.Asp68Glu) variant details
- p.Asp68Glu
- rs1869780
- ClinGen CA673979
- ClinVar RCV000375285
- ClinVar RCV000889185
- Benign/Likely benign
- not specified; not provided; Lethal Kniest-like syndrome
- Missense
- REVEL 0.06
- CADD 1.05
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign/Likely benign (not specified; not provided; Lethal Kniest-like syndrome)
- EBI: Benign (in dbSNP:rs1869780)
- UniProt: Benign (in dbSNP:rs1869780)
- Population evidence available