S51L (p.Ser51Leu) variant of HSPG2 (P98160)
S51L (p.Ser51Leu) in HSPG2 (P98160) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and population frequency data.
S51L (p.Ser51Leu) variant details
- p.Ser51Leu
- rs866719632
- NCI-TCGA Cosmic COSV1010
- gnomAD rs866719632
- Variant assessed as somatic; moderate impact.
- Missense
- REVEL 0.14
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.14
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available