S71N (p.Ser71Asn) variant of HSPG2 (P98160)
S71N (p.Ser71Asn) 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; Lethal Kniest-like syndrome. The record also includes variant effect predictions.
S71N (p.Ser71Asn) variant details
- p.Ser71Asn
- rs781177979
- ClinGen CA338898697
- ClinVar RCV001544516
- TOPMed rs781177979
- Uncertain significance
- Schwartz-Jampel syndrome; Lethal Kniest-like syndrome
- Missense
- AlphaMissense 0.33
- MetaLR 0.55
- MetaSVM -0.23
- PolyPhen-2 0.53
- SIFT 0.01
- MutPred 0.18
- ClinVar: Uncertain significance (Schwartz-Jampel syndrome; Lethal Kniest-like syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance