D39G (p.Asp39Gly) variant of TUBB2B (Tubulin beta-2B chain)
D39G (p.Asp39Gly) in TUBB2B (Tubulin beta-2B chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of TUBB2B-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
D39G (p.Asp39Gly) variant details
- p.Asp39Gly
- gnomAD rs1757290815
- Uncertain significance
- TUBB2B-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.65
- CADD 25.70
- ClinVar: Uncertain significance (TUBB2B-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available