G64D (p.Gly64Asp) variant of SETBP1 (SET-binding protein)
G64D (p.Gly64Asp) in SETBP1 (SET-binding protein) is a missense change. Clinical records from ClinVar 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 0.66 / 1. The record also includes population frequency data and structural context.
G64D (p.Gly64Asp) variant details
- p.Gly64Asp
- gnomAD rs1486940365
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- CADD 25.00
- PolyPhen-2 0.54
- SIFT 0.02
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available