I94M (p.Ile94Met) variant of HSPG2 (P98160)
I94M (p.Ile94Met) 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.
I94M (p.Ile94Met) variant details
- p.Ile94Met
- ExAC rs766053015
- TOPMed rs766053015
- gnomAD rs766053015
- Likely benign
- Missense
- REVEL 0.07
- CADD 4.13
- PolyPhen-2 0.01
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available