T118M (p.Thr118Met) variant of HSPG2 (P98160)
T118M (p.Thr118Met) in HSPG2 (P98160) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and population frequency data.
T118M (p.Thr118Met) variant details
- p.Thr118Met
- rs769350557
- ClinGen CA673936
- ClinVar RCV003131200
- ExAC rs769350557
- Uncertain significance
- Missense
- REVEL 0.14
- CADD 23.10
- PolyPhen-2 0.27
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available