P127R (p.Pro127Arg) variant of HSPG2 (P98160)
P127R (p.Pro127Arg) 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.
P127R (p.Pro127Arg) variant details
- p.Pro127Arg
- ESP rs138549668
- ExAC rs138549668
- TOPMed rs138549668
- gnomAD rs138549668
- Uncertain significance
- Missense
- REVEL 0.59
- CADD 26.90
- PolyPhen-2 0.93
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available