R54P (p.Arg54Pro) variant of SETBP1 (SET-binding protein)
R54P (p.Arg54Pro) in SETBP1 (SET-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R54P (p.Arg54Pro) variant details
- p.Arg54Pro
- rs140717709
- ClinGen CA299822525
- ClinVar RCV002924337
- 1000Genomes rs140717709
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- CADD 26.30
- PolyPhen-2 0.60
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)