G52R (p.Gly52Arg) variant of SETBP1 (SET-binding protein)
G52R (p.Gly52Arg) in SETBP1 (SET-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
G52R (p.Gly52Arg) variant details
- p.Gly52Arg
- rs751299712
- ClinGen CA8945339
- ClinVar RCV002908415
- ExAC rs751299712
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- CADD 24.80
- ClinVar: Uncertain significance (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available