Q342P (p.Gln342Pro) variant of TUBA1A (Tubulin alpha-1A chain)
Q342P (p.Gln342Pro) in TUBA1A (Tubulin alpha-1A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Tubulinopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
Q342P (p.Gln342Pro) variant details
- p.Gln342Pro
- rs1555162307
- ClinGen CA384637044
- ClinVar RCV000521383
- ClinVar RCV000767457
- Likely pathogenic
- Tubulinopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- AlphaMissense 0.97
- MetaLR 0.73
- MetaSVM 0.49
- PolyPhen-2 0.01
- SIFT 0.00
- MutPred 0.66
- ClinVar: Likely pathogenic (Tubulinopathy; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)