P19S (p.Pro19Ser) variant of PKD2 (Polycystin-2)
P19S (p.Pro19Ser) 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 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P19S (p.Pro19Ser) variant details
- p.Pro19Ser
- rs2476356520
- ClinGen CA357624957
- ClinVar RCV003747170
- Uncertain significance
- Autosomal dominant polycystic kidney disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.11
- CADD 10.60
- PolyPhen-2 0.12
- SIFT 0.14
- ClinVar: Uncertain significance (Autosomal dominant polycystic kidney disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.6e-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)