A12T (p.Ala12Thr) variant of HSPG2 (P98160)
A12T (p.Ala12Thr) 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.
A12T (p.Ala12Thr) variant details
- p.Ala12Thr
- rs529434165
- ClinGen CA19121361
- ClinVar RCV002786266
- 1000Genomes rs529434165
- Uncertain significance
- not provided
- Missense
- REVEL 0.14
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.59
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available