P12L (p.Pro12Leu) variant of PKD2 (Polycystin-2)
P12L (p.Pro12Leu) in PKD2 (Polycystin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Autosomal dominant polycystic kidney disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
P12L (p.Pro12Leu) variant details
- p.Pro12Leu
- rs1459980217
- ClinGen CA357624872
- ClinVar RCV003747681
- TOPMed rs1459980217
- Likely benign
- Autosomal dominant polycystic kidney disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.09
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Likely benign (Autosomal dominant polycystic kidney disease)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-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)