G7V (p.Gly7Val) variant of HSPG2 (P98160)
G7V (p.Gly7Val) 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.
G7V (p.Gly7Val) variant details
- p.Gly7Val
- rs2152809591
- ClinGen CA338910042
- ClinVar RCV003017760
- Ensembl rs2152809591
- Uncertain significance
- not provided
- Missense
- REVEL 0.29
- CADD 14.90
- PolyPhen-2 0.13
- SIFT 0.53
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available