L13Q (p.Leu13Gln) variant of PKD1 (Polycystin-1)
L13Q (p.Leu13Gln) in PKD1 (Polycystin-1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in PKD1. The record also includes variant effect predictions, published literature, and structural context.
L13Q (p.Leu13Gln) variant details
- p.Leu13Gln
- UniProt VAR 011030
- Pathogenic
- in PKD1
- Missense
- MetaLR 0.08
- MetaSVM -1.00
- SIFT 0.00
- EBI: Pathogenic (in PKD1)
- UniProt: Pathogenic (in PKD1)
- Structural context available
- Cited in: Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications. (PMID 11115377)
- Cited in: Mutational analysis within the 3' region of the PKD1 gene. (PMID 10200984)