L3908P (p.Leu3908Pro) variant of PKD1 (Polycystin-1)
L3908P (p.Leu3908Pro) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Polycystic kidney disease, adult type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
L3908P (p.Leu3908Pro) variant details
- p.Leu3908Pro
- rs2151688569
- ClinGen CA394330306
- ClinVar RCV001374662
- Ensembl rs2151688569
- Pathogenic
- Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.61
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Pathogenic (Polycystic kidney disease, adult type)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)