I42T (p.Ile42Thr) variant of TUBA1A (Tubulin alpha-1A chain)
I42T (p.Ile42Thr) in TUBA1A (Tubulin alpha-1A chain) is a missense change. Clinical records from ClinVar 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 0.38 / 1. The record also includes population frequency data and structural context.
I42T (p.Ile42Thr) variant details
- p.Ile42Thr
- 1000Genomes rs1247802698
- TOPMed rs1247802698
- gnomAD rs1247802698
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.36
- MetaLR 0.34
- MetaSVM -0.52
- CADD 21.70
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available