G3324R (p.Gly3324Arg) variant of HSPG2 (P98160)
G3324R (p.Gly3324Arg) 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 type 1; not provided; Schwartz-Jampel syndrome. The record also includes variant effect predictions and population frequency data.
G3324R (p.Gly3324Arg) variant details
- p.Gly3324Arg
- rs1294413650
- ClinGen CA338912092
- ClinVar RCV001261556
- ClinVar RCV001597262
- Likely pathogenic
- Schwartz-Jampel syndrome type 1; not provided; Schwartz-Jampel syndrome
- Missense
- REVEL 0.80
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Schwartz-Jampel syndrome type 1; not provided; Schwartz-Jampel s)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available