L72Q (p.Leu72Gln) variant of PKD1 (Polycystin-1)
L72Q (p.Leu72Gln) in PKD1 (Polycystin-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature and structural context.
L72Q (p.Leu72Gln) variant details
- p.Leu72Gln
- rs1596636573
- ClinGen CA394282123
- ClinVar RCV001029930
- Ensembl rs1596636573
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)