L34P (p.Leu34Pro) variant of HSPG2 (P98160)
L34P (p.Leu34Pro) in HSPG2 (P98160) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The record also includes variant effect predictions and population frequency data.
L34P (p.Leu34Pro) variant details
- p.Leu34Pro
- ESP rs371633219
- ExAC rs371633219
- TOPMed rs371633219
- gnomAD rs371633219
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- REVEL 0.52
- CADD 25.80
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available