L20L (p.Leu20Leu) variant of SETBP1 (SET-binding protein)
L20L (p.Leu20Leu) in SETBP1 (SET-binding protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L20L (p.Leu20Leu) variant details
- p.Leu20Leu
- gnomAD 18-44701404-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.286
- CADD 8.96
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available