I24V (p.Ile24Val) variant of TUBB2B (Tubulin beta-2B chain)
I24V (p.Ile24Val) 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 tubulinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
I24V (p.Ile24Val) variant details
- p.Ile24Val
- rs2113819824
- ClinGen CA362590027
- ClinVar RCV001797034
- Ensembl rs2113819824
- Uncertain significance
- TUBB2B-related tubulinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.44
- CADD 23.40
- PolyPhen-2 0.25
- SIFT 0.08
- ClinVar: Uncertain significance (TUBB2B-related tubulinopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available