E57K (p.Glu57Lys) variant of HSPG2 (P98160)
E57K (p.Glu57Lys) in HSPG2 (P98160) is a missense change. The record also includes variant effect predictions and population frequency data.
E57K (p.Glu57Lys) variant details
- p.Glu57Lys
- gnomAD rs1642735487
- Missense
- REVEL 0.25
- CADD 25.30
- PolyPhen-2 0.91
- SIFT 0.01
- Population evidence available