A180V (p.Ala180Val) variant of TUBA1A (Tubulin alpha-1A chain)
A180V (p.Ala180Val) 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 not provided; Lissencephaly due to TUBA1A mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A180V (p.Ala180Val) variant details
- p.Ala180Val
- rs2121244643
- ClinGen CA384641867
- ClinVar RCV001804245
- ClinVar RCV004591571
- Likely pathogenic
- not provided; Lissencephaly due to TUBA1A mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- CADD 11.10
- SIFT 0.38
- ClinVar: Likely pathogenic (not provided; Lissencephaly due to TUBA1A mutation)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)