S121L (p.Ser121Leu) variant of HSPG2 (P98160)
S121L (p.Ser121Leu) 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.
S121L (p.Ser121Leu) variant details
- p.Ser121Leu
- rs780963482
- ClinGen CA673908
- NCI-TCGA Cosmic COSV6593
- ClinVar RCV001912673
- Uncertain significance
- not provided
- Missense
- REVEL 0.17
- CADD 24.60
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available