S76R (p.Ser76Arg) variant of HSPG2 (P98160)
S76R (p.Ser76Arg) in HSPG2 (P98160) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions and population frequency data.
S76R (p.Ser76Arg) variant details
- p.Ser76Arg
- ExAC rs748426323
- TOPMed rs748426323
- gnomAD rs748426323
- Likely benign
- Missense
- REVEL 0.27
- CADD 15.00
- PolyPhen-2 0.04
- SIFT 0.03
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)