H61P (p.His61Pro) variant of TUBA1A (Tubulin alpha-1A chain)
H61P (p.His61Pro) 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 TUBA1A-related disorder. The record also includes structural context.
H61P (p.His61Pro) variant details
- p.His61Pro
- rs2498863339
- ClinGen CA384644894
- ClinVar RCV003397351
- Likely pathogenic
- TUBA1A-related disorder
- Missense
- ClinVar: Likely pathogenic (TUBA1A-related disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available