E95K (p.Glu95Lys) variant of HSPG2 (P98160)
E95K (p.Glu95Lys) 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.
E95K (p.Glu95Lys) variant details
- p.Glu95Lys
- rs145704241
- NCI-TCGA Cosmic COSV1010
- 1000Genomes rs145704241
- ESP rs145704241
- Uncertain significance
- Missense
- REVEL 0.10
- CADD 14.10
- PolyPhen-2 0.01
- SIFT 0.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available