G52E (p.Gly52Glu) variant of SETBP1 (SET-binding protein)
G52E (p.Gly52Glu) in SETBP1 (SET-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
G52E (p.Gly52Glu) variant details
- p.Gly52Glu
- rs375461817
- ClinGen CA8945340
- ClinVar RCV003566837
- ESP rs375461817
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- CADD 23.50
- PolyPhen-2 0.29
- SIFT 0.02
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available