C3320R (p.Cys3320Arg) variant of HSPG2 (P98160)
C3320R (p.Cys3320Arg) 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; Schwartz-Jampel syndrome. The record also includes variant effect predictions and population frequency data.
C3320R (p.Cys3320Arg) variant details
- p.Cys3320Arg
- rs2098038156
- ClinGen CA338912144
- ClinVar RCV001331411
- ClinVar RCV005860218
- Likely pathogenic
- Schwartz-Jampel syndrome type 1; Schwartz-Jampel syndrome
- Missense
- REVEL 0.66
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Schwartz-Jampel syndrome type 1; Schwartz-Jampel syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available