R54G (p.Arg54Gly) variant of PKD1 (Polycystin-1)
R54G (p.Arg54Gly) 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 0.18 / 1. The record also includes population frequency data and structural context.
R54G (p.Arg54Gly) variant details
- p.Arg54Gly
- TOPMed rs1053936081
- gnomAD rs1053936081
- Uncertain significance
- Inborn genetic diseases; Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.05
- MetaLR 0.05
- MetaSVM -1.05
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.39
- ClinVar: Uncertain significance (Inborn genetic diseases; Polycystic kidney disease, adult type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available