R54L (p.Arg54Leu) variant of SETBP1 (SET-binding protein)
R54L (p.Arg54Leu) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R54L (p.Arg54Leu) variant details
- p.Arg54Leu
- rs140717709
- ClinGen CA8945343
- ClinVar RCV001884421
- ClinVar RCV005863536
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- CADD 24.00
- PolyPhen-2 0.20
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: SETBP1 Haploinsufficiency Disorder. (PMID 34807554)
- Cited in: Schinzel-Giedion Syndrome. (PMID 38452171)