H50L (p.His50Leu) variant of HSPG2 (P98160)
H50L (p.His50Leu) in HSPG2 (P98160) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified. The record also includes variant effect predictions and population frequency data.
H50L (p.His50Leu) variant details
- p.His50Leu
- rs138518139
- ClinGen CA674013
- ClinVar RCV000414733
- ClinVar RCV000757382
- Conflicting interpretations
- not provided; not specified
- Missense
- REVEL 0.08
- CADD 8.00
- PolyPhen-2 0.01
- SIFT 0.53
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available