D68N (p.Asp68Asn) variant of HSPG2 (P98160)
D68N (p.Asp68Asn) in HSPG2 (P98160) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The record also includes variant effect predictions and population frequency data.
D68N (p.Asp68Asn) variant details
- p.Asp68Asn
- rs746978748
- ClinGen CA673980
- ClinVar RCV001812454
- ExAC rs746978748
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- REVEL 0.09
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance (in dbSNP:rs1869780)
- UniProt: Uncertain significance (in dbSNP:rs1869780)
- Population evidence available