L139R (p.Leu139Arg) variant of TUBB2B (Tubulin beta-2B chain)
L139R (p.Leu139Arg) in TUBB2B (Tubulin beta-2B chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L139R (p.Leu139Arg) variant details
- p.Leu139Arg
- rs780152583
- gnomAD 6-3225672-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.466
- CADD 32.00
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available