G872R (p.Gly872Arg) variant of SETBP1 (SET-binding protein)
G872R (p.Gly872Arg) in SETBP1 (SET-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Penile hypospadias; Large fontanelles; Teratoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1.
G872R (p.Gly872Arg) variant details
- p.Gly872Arg
- rs1555706928
- ClinGen CA402321825
- ClinVar RCV000626930
- Ensembl rs1555706928
- Likely pathogenic
- Penile hypospadias; Large fontanelles; Teratoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- AlphaMissense 1.00
- MetaLR 0.79
- MetaSVM 0.68
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Likely pathogenic (Penile hypospadias; Large fontanelles; Teratoma)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic