R57W (p.Arg57Trp) variant of PKD1 (Polycystin-1)
R57W (p.Arg57Trp) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Polycystic kidney disease, adult type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R57W (p.Arg57Trp) variant details
- p.Arg57Trp
- rs1315029199
- ClinGen CA394282321
- ClinVar RCV003268388
- ClinVar RCV005021892
- Uncertain significance
- Inborn genetic diseases; Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.13
- MetaLR 0.06
- MetaSVM -0.99
- CADD 22.80
- PolyPhen-2 0.04
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; Polycystic kidney disease, adult type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)