P24S (p.Pro24Ser) variant of PKD2 (Polycystin-2)
P24S (p.Pro24Ser) in PKD2 (Polycystin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Autosomal dominant polycystic kidney disease; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
P24S (p.Pro24Ser) variant details
- p.Pro24Ser
- rs786204221
- ClinGen CA334636
- ClinVar RCV002053997
- ClinVar RCV003927558
- Conflicting interpretations
- Autosomal dominant polycystic kidney disease; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.04
- CADD 6.86
- PolyPhen-2 0.00
- SIFT 0.71
- ClinVar: Conflicting classifications of pathogenicity (Autosomal dominant polycystic kidney disease; not specified)
- EBI: Benign (in dbSNP:rs1004860210)
- UniProt: Benign (in dbSNP:rs1004860210)
- Most common in the Ashkenazi Jewish population (allele frequency 0.0038)
- 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)