R28P (p.Arg28Pro) variant of PKD2 (Polycystin-2)
R28P (p.Arg28Pro) in PKD2 (Polycystin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Autosomal dominant polycystic kidney disease; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
R28P (p.Arg28Pro) variant details
- p.Arg28Pro
- rs1805044
- ClinGen CA146023
- ClinVar RCV000078585
- ClinVar RCV000287058
- Benign
- Autosomal dominant polycystic kidney disease; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.05
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Benign (Autosomal dominant polycystic kidney disease; not specified; not)
- EBI: Benign (in dbSNP:rs1805044)
- UniProt: Benign (in dbSNP:rs1805044)
- Most common in the 1KG:CEU population (allele frequency 0.39)
- Structural context available
- Cited in: Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease. (PMID 10411676)
- Cited in: Four novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease. (PMID 11968093)