A29D (p.Ala29Asp) variant of SETBP1 (SET-binding protein)
A29D (p.Ala29Asp) in SETBP1 (SET-binding protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
A29D (p.Ala29Asp) variant details
- p.Ala29Asp
- gnomAD rs1292543210
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- CADD 17.70
- PolyPhen-2 0.03
- SIFT 0.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available