A8V (p.Ala8Val) variant of HSPG2 (P98160)
A8V (p.Ala8Val) 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.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- TOPMed rs1431679446
- gnomAD rs1431679446
- Uncertain significance
- Missense
- REVEL 0.18
- CADD 17.10
- PolyPhen-2 0.02
- SIFT 0.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available