E95V (p.Glu95Val) variant of HSPG2 (P98160)
E95V (p.Glu95Val) in HSPG2 (P98160) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions and population frequency data.
E95V (p.Glu95Val) variant details
- p.Glu95Val
- rs1056004722
- ClinGen CA19087166
- ClinVar RCV003087290
- TOPMed rs1056004722
- Uncertain significance
- not provided
- Missense
- REVEL 0.12
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available