H77R (p.His77Arg) variant of TBCD (Tubulin-specific chaperone D)
H77R (p.His77Arg) in TBCD (Tubulin-specific chaperone D) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
H77R (p.His77Arg) variant details
- p.His77Arg
- rs1409600874
- ClinGen CA401622611
- ClinVar RCV000762220
- ClinVar RCV000995888
- Pathogenic/Likely pathogenic
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.64
- CADD 25.50
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Early-onset progressive diffuse brain atrophy-microcephaly-muscl)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:LWK population (allele frequency 0.17)
- Structural context available