E205Q (p.Glu205Gln) variant of TUBB3 (Tubulin beta-3 chain)
E205Q (p.Glu205Gln) 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 Complex cortical dysplasia with other brain malformations 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
E205Q (p.Glu205Gln) variant details
- p.Glu205Gln
- gnomAD rs878853257
- Likely pathogenic
- Complex cortical dysplasia with other brain malformations 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.66
- AlphaMissense 0.95
- MetaLR 0.50
- MetaSVM 0.07
- CADD 28.70
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Complex cortical dysplasia with other brain malformations 1)
- EBI: Pathogenic (in CDCBM1)
- UniProt: Pathogenic (in CDCBM1)
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available