R502G (p.Arg502Gly) variant of TBCD (Tubulin-specific chaperone D)
R502G (p.Arg502Gly) in TBCD (Tubulin-specific chaperone D) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.50 / 1. The record also includes population frequency data and structural context.
R502G (p.Arg502Gly) variant details
- p.Arg502Gly
- rs752953575
- ClinGen CA401622819
- ClinVar RCV000995889
- ExAC rs752953575
- Likely pathogenic
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.43
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Early-onset progressive diffuse brain atrophy-microcephaly-muscl)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:JAPANESE population (allele frequency 1)
- Structural context available