V342M (p.Val342Met) variant of TUBB3 (Tubulin beta-3 chain)
V342M (p.Val342Met) in TUBB3 (Tubulin beta-3 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Spastic ataxia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
V342M (p.Val342Met) variant details
- p.Val342Met
- rs1210717639
- ClinGen CA397476523
- ClinVar RCV001647245
- Ensembl rs1210717639
- Likely pathogenic
- Spastic ataxia
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.88
- CADD 29.70
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Likely pathogenic (Spastic ataxia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available