R54Q (p.Arg54Gln) variant of SETD5 (Q9C0A6)
R54Q (p.Arg54Gln) in SETD5 (Q9C0A6) 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R54Q (p.Arg54Gln) variant details
- p.Arg54Gln
- rs763773124
- ClinGen CA2238843
- ClinVar RCV001758497
- ClinVar RCV005271360
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.36
- MetaLR 0.76
- MetaSVM 0.37
- CADD 25.60
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 3.3e-05)
- 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)