L32F (p.Leu32Phe) variant of HSPG2 (P98160)
L32F (p.Leu32Phe) in HSPG2 (P98160) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions and population frequency data.
L32F (p.Leu32Phe) variant details
- p.Leu32Phe
- 1000Genomes rs185790675
- ESP rs185790675
- ExAC rs185790675
- TOPMed rs185790675
- Likely benign
- Missense
- REVEL 0.20
- CADD 15.30
- PolyPhen-2 0.42
- SIFT 0.04
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available