P127L (p.Pro127Leu) variant of HSPG2 (P98160)
P127L (p.Pro127Leu) 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.
P127L (p.Pro127Leu) variant details
- p.Pro127Leu
- rs138549668
- ClinGen CA673902
- ClinVar RCV003131169
- ESP rs138549668
- Uncertain significance
- not provided
- Missense
- REVEL 0.49
- CADD 28.30
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available