R156H (p.Arg156His) variant of TUBA1A (Tubulin alpha-1A chain)
R156H (p.Arg156His) 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 not provided; Congenital fibrosis of extraocular muscles. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes structural context.
R156H (p.Arg156His) variant details
- p.Arg156His
- rs1942174390
- ClinGen CA384642420
- NCI-TCGA Cosmic COSV5549
- cosmic curated COSV55496
- Pathogenic/Likely pathogenic
- not provided; Congenital fibrosis of extraocular muscles
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- AlphaMissense 0.74
- MetaLR 0.49
- MetaSVM 0.29
- PolyPhen-2 0.03
- SIFT 0.00
- MutPred 0.69
- ClinVar: Pathogenic/Likely pathogenic (not provided; Congenital fibrosis of extraocular muscles)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available