E16K (p.Glu16Lys) variant of SETBP1 (SET-binding protein)
E16K (p.Glu16Lys) 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; Schinzel-Giedion syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and published literature.
E16K (p.Glu16Lys) variant details
- p.Glu16Lys
- rs587784381
- ClinGen CA173411
- cosmic curated COSV56320
- ClinVar RCV000147470
- Conflicting interpretations
- Inborn genetic diseases; not provided; Schinzel-Giedion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- CADD 24.10
- PolyPhen-2 0.10
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Schinzel-Giedion syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 0.00032)
- 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)