H16P (p.His16Pro) variant of HSPG2 (P98160)
H16P (p.His16Pro) 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.
H16P (p.His16Pro) variant details
- p.His16Pro
- rs1644512300
- ClinGen CA338909957
- ClinVar RCV001906146
- Ensembl rs1644512300
- Uncertain significance
- not provided
- Missense
- REVEL 0.37
- CADD 21.60
- PolyPhen-2 0.04
- SIFT 0.23
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available