S52W (p.Ser52Trp) variant of PKD1 (Polycystin-1)
S52W (p.Ser52Trp) in PKD1 (Polycystin-1) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
S52W (p.Ser52Trp) variant details
- p.Ser52Trp
- rs2092940490
- ClinGen CA394282392
- ClinVar RCV001092721
- Ensembl rs2092940490
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.27
- MetaLR 0.12
- MetaSVM -0.95
- CADD 26.10
- PolyPhen-2 0.78
- SIFT 0.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available