D129Y (p.Asp129Tyr) variant of HSPG2 (P98160)
D129Y (p.Asp129Tyr) in HSPG2 (P98160) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Schwartz-Jampel syndrome type 1; Lethal Kniest-like syndrome. The record also includes variant effect predictions and population frequency data.
D129Y (p.Asp129Tyr) variant details
- p.Asp129Tyr
- TOPMed rs1388933414
- gnomAD rs1388933414
- Uncertain significance
- Schwartz-Jampel syndrome type 1; Lethal Kniest-like syndrome
- Missense
- REVEL 0.24
- CADD 25.20
- PolyPhen-2 0.56
- SIFT 0.01
- ClinVar: Uncertain significance (Schwartz-Jampel syndrome type 1; Lethal Kniest-like syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available