A28V (p.Ala28Val) variant of HSPG2 (P98160)
A28V (p.Ala28Val) 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; Connective tissue disorder. The record also includes variant effect predictions and population frequency data.
A28V (p.Ala28Val) variant details
- p.Ala28Val
- rs754643779
- ClinGen CA674035
- ClinVar RCV001355248
- ClinVar RCV002276710
- Conflicting interpretations
- not provided; Connective tissue disorder
- Missense
- REVEL 0.28
- CADD 22.70
- PolyPhen-2 0.60
- SIFT 0.56
- ClinVar: Conflicting classifications of pathogenicity (not provided; Connective tissue disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available