I24T (p.Ile24Thr) variant of TUBB3 (Tubulin beta-3 chain)
I24T (p.Ile24Thr) in TUBB3 (Tubulin beta-3 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
I24T (p.Ile24Thr) variant details
- p.Ile24Thr
- rs1567763964
- ClinGen CA397470692
- ClinVar RCV000729110
- Ensembl rs1567763964
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.75
- CADD 29.20
- PolyPhen-2 0.88
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available