R772C (p.Arg772Cys) variant of TBCD (Tubulin-specific chaperone D)
R772C (p.Arg772Cys) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R772C (p.Arg772Cys) variant details
- p.Arg772Cys
- rs181969865
- ClinGen CA10602686
- NCI-TCGA Cosmic COSV6279
- cosmic curated COSV62798
- Pathogenic/Likely pathogenic
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.62
- CADD 23.70
- PolyPhen-2 0.28
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (Early-onset progressive diffuse brain atrophy-microcephaly-muscl)
- EBI: Pathogenic (in PEBAT)
- UniProt: Pathogenic (in PEBAT)
- Most common in the 1KG:LWK population (allele frequency 0.17)
- Structural context available
- Cited in: Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy. (PMID 27666374)
- Cited in: Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause… (PMID 27666370)