M425K (p.Met425Lys) variant of TUBA1A (Tubulin alpha-1A chain)
M425K (p.Met425Lys) in TUBA1A (Tubulin alpha-1A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Tubulinopathy; Lissencephaly due to TUBA1A mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
M425K (p.Met425Lys) variant details
- p.Met425Lys
- rs587784484
- ClinGen CA213260
- ClinVar RCV000147800
- ClinVar RCV000767475
- Pathogenic/Likely pathogenic
- Tubulinopathy; Lissencephaly due to TUBA1A mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- AlphaMissense 0.99
- MetaLR 0.66
- MetaSVM 0.27
- PolyPhen-2 0.03
- SIFT 0.00
- MutPred 0.56
- ClinVar: Pathogenic/Likely pathogenic (Tubulinopathy; Lissencephaly due to TUBA1A mutation)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)