R11Q (p.Arg11Gln) variant of SETBP1 (SET-binding protein)
R11Q (p.Arg11Gln) in SETBP1 (SET-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and published literature.
R11Q (p.Arg11Gln) variant details
- p.Arg11Gln
- rs535002208
- ClinGen CA299822450
- cosmic curated COSV56317
- ClinVar RCV003090551
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- CADD 26.60
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- 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)