P26L (p.Pro26Leu) variant of PKD2 (Polycystin-2)
P26L (p.Pro26Leu) in PKD2 (Polycystin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal dominant polycystic kidney disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
P26L (p.Pro26Leu) variant details
- p.Pro26Leu
- rs1447102982
- ClinGen CA357625048
- ClinVar RCV002770237
- Uncertain significance
- Autosomal dominant polycystic kidney disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.13
- CADD 20.20
- PolyPhen-2 0.02
- SIFT 0.00
- ClinVar: Uncertain significance (Autosomal dominant polycystic kidney disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 5e-05)
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)
- Cited in: Spanish guidelines for the management of autosomal dominant polycystic kidney disease. (PMID 25165191)