A34S (p.Ala34Ser) variant of SETBP1 (SET-binding protein)
A34S (p.Ala34Ser) 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 0.09 / 1. The record also includes population frequency data and structural context.
A34S (p.Ala34Ser) variant details
- p.Ala34Ser
- rs1234829999
- ClinGen CA402481437
- ClinVar RCV002293941
- gnomAD rs1234829999
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.094
- CADD 2.63
- PolyPhen-2 0.00
- SIFT 0.86
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available