P693T (p.Pro693Thr) variant of TBCD (Tubulin-specific chaperone D)
P693T (p.Pro693Thr) 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 0.45 / 1. The record also includes population frequency data and structural context.
P693T (p.Pro693Thr) variant details
- p.Pro693Thr
- rs2510643985
- ClinGen CA401632691
- ClinVar RCV003311581
- Likely pathogenic
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.23
- CADD 24.60
- PolyPhen-2 0.69
- SIFT 0.04
- ClinVar: Likely pathogenic (Early-onset progressive diffuse brain atrophy-microcephaly-muscl)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available