H50R (p.His50Arg) variant of HSPG2 (P98160)
H50R (p.His50Arg) 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.
H50R (p.His50Arg) variant details
- p.His50Arg
- 1000Genomes rs138518139
- ESP rs138518139
- ExAC rs138518139
- TOPMed rs138518139
- Likely benign
- Missense
- REVEL 0.06
- CADD 7.79
- PolyPhen-2 0.00
- SIFT 0.28
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available