R2761P (p.Arg2761Pro) variant of PKD1 (Polycystin-1)
R2761P (p.Arg2761Pro) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Polycystic kidney disease, adult type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R2761P (p.Arg2761Pro) variant details
- p.Arg2761Pro
- rs145629362
- ClinGen CA394364847
- ClinVar RCV001254309
- ClinVar RCV001292162
- Likely pathogenic
- Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.27
- CADD 23.50
- PolyPhen-2 0.88
- SIFT 0.17
- ClinVar: Likely pathogenic (Polycystic kidney disease, adult type)
- EBI: Pathogenic (in PKD1)
- UniProt: Pathogenic (in PKD1)
- Population evidence available
- Structural context available
- Cited in: An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation… (PMID 9285784)
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)