M55I (p.Met55Ile) variant of SETBP1 (SET-binding protein)
M55I (p.Met55Ile) 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 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
M55I (p.Met55Ile) variant details
- p.Met55Ile
- rs778818507
- ClinGen CA8945344
- ClinVar RCV001542386
- ClinVar RCV002570657
- Conflicting interpretations
- Inborn genetic diseases; not provided; Schinzel-Giedion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Schinzel-Giedion syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- 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)