S52P (p.Ser52Pro) variant of PKD1 (Polycystin-1)
S52P (p.Ser52Pro) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PKD1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
S52P (p.Ser52Pro) variant details
- p.Ser52Pro
- rs2544960233
- ClinGen CA394282397
- ClinVar RCV003976879
- Uncertain significance
- PKD1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.20
- MetaLR 0.07
- MetaSVM -1.07
- CADD 24.10
- PolyPhen-2 0.28
- SIFT 0.01
- ClinVar: Uncertain significance (PKD1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available