A21V (p.Ala21Val) variant of HSPG2 (P98160)
A21V (p.Ala21Val) in HSPG2 (P98160) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes variant effect predictions and population frequency data.
A21V (p.Ala21Val) variant details
- p.Ala21Val
- TOPMed rs1381228735
- gnomAD rs1381228735
- Uncertain significance
- Inborn genetic diseases
- Missense
- REVEL 0.08
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.28
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available