L13P (p.Leu13Pro) variant of PKD1 (Polycystin-1)
L13P (p.Leu13Pro) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Polycystic kidney disease, adult type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L13P (p.Leu13Pro) variant details
- p.Leu13Pro
- rs2092941758
- ClinGen CA394283096
- ClinVar RCV001289049
- ClinVar RCV002486089
- Uncertain significance
- not provided; Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.24
- MetaLR 0.09
- MetaSVM -0.99
- CADD 22.80
- PolyPhen-2 0.60
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Polycystic kidney disease, adult type)
- EBI: Variant of uncertain significance (in PKD1)
- UniProt: Uncertain significance (in PKD1)
- Population evidence available
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)