R54H (p.Arg54His) variant of SETBP1 (SET-binding protein)
R54H (p.Arg54His) in SETBP1 (SET-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R54H (p.Arg54His) variant details
- p.Arg54His
- rs140717709
- ClinGen CA8945342
- cosmic curated COSV56330
- ClinVar RCV002132313
- Benign/Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- CADD 23.90
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Benign/Likely benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available