A29A (p.Ala29Ala) variant of SETBP1 (SET-binding protein)
A29A (p.Ala29Ala) in SETBP1 (SET-binding protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A29A (p.Ala29Ala) variant details
- p.Ala29Ala
- gnomAD 18-44701433-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.136
- CADD 7.86
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available