R377Q (p.Arg377Gln) variant of TBCD (Tubulin-specific chaperone D)
R377Q (p.Arg377Gln) in TBCD (Tubulin-specific chaperone D) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R377Q (p.Arg377Gln) variant details
- p.Arg377Gln
- rs764085684
- ClinGen CA8861900
- NCI-TCGA Cosmic COSV6280
- ClinVar RCV000258901
- Pathogenic
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.50
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Early-onset progressive diffuse brain atrophy-microcephaly-muscl)
- EBI: Pathogenic (in PEBAT)
- UniProt: Pathogenic (in PEBAT)
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- Cited in: Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause… (PMID 27666370)
- Cited in: Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy. (PMID 27666374)