C375W (p.Cys375Trp) variant of HSPG2 (P98160)
C375W (p.Cys375Trp) in HSPG2 (P98160) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Schwartz-Jampel syndrome. The record also includes variant effect predictions and population frequency data.
C375W (p.Cys375Trp) variant details
- p.Cys375Trp
- rs543805444
- ClinGen CA338967676
- ClinVar RCV001248829
- ExAC rs543805444
- Likely pathogenic
- Schwartz-Jampel syndrome
- Missense
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.85
- ClinVar: Likely pathogenic (Schwartz-Jampel syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available