D129N (p.Asp129Asn) variant of HSPG2 (P98160)
D129N (p.Asp129Asn) in HSPG2 (P98160) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and population frequency data.
D129N (p.Asp129Asn) variant details
- p.Asp129Asn
- rs1388933414
- TOPMed rs1388933414
- gnomAD rs1388933414
- Uncertain significance
- Missense
- REVEL 0.18
- CADD 23.70
- PolyPhen-2 0.12
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available