L287S (p.Leu287Ser) variant of PKD2 (Polycystin-2)
L287S (p.Leu287Ser) in PKD2 (Polycystin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Polycystic kidney disease, adult type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
L287S (p.Leu287Ser) variant details
- p.Leu287Ser
- rs1727413505
- ClinGen CA357632286
- ClinVar RCV001281161
- Ensembl rs1727413505
- Likely pathogenic
- Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- AlphaMissense 0.86
- MetaLR 0.74
- MetaSVM 0.68
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.91
- ClinVar: Likely pathogenic (Polycystic kidney disease, adult type)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)