P26S (p.Pro26Ser) variant of PKD2 (Polycystin-2)
P26S (p.Pro26Ser) in PKD2 (Polycystin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Autosomal dominant polycystic kidney disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
P26S (p.Pro26Ser) variant details
- p.Pro26Ser
- rs1037715951
- ClinGen CA100872988
- ClinVar RCV002770096
- ClinVar RCV005382473
- Uncertain significance
- Inborn genetic diseases; Autosomal dominant polycystic kidney disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.03
- CADD 17.60
- PolyPhen-2 0.02
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; Autosomal dominant polycystic kidney di)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- 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)