R47H (p.Arg47His) variant of HSPG2 (P98160)
R47H (p.Arg47His) in HSPG2 (P98160) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and population frequency data.
R47H (p.Arg47His) variant details
- p.Arg47His
- rs751202082
- NCI-TCGA Cosmic COSV6597
- ExAC rs751202082
- TOPMed rs751202082
- Variant assessed as somatic; moderate impact.
- Missense
- REVEL 0.07
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.18
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available