A554V (p.Ala554Val) variant of TBCD (Tubulin-specific chaperone D)
A554V (p.Ala554Val) 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 0.49 / 1. The record also includes structural context.
A554V (p.Ala554Val) variant details
- p.Ala554Val
- rs1555641324
- ClinGen CA401628072
- ClinVar RCV000522161
- ClinVar RCV000723330
- Pathogenic/Likely pathogenic
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- AlphaMissense 0.51
- MetaLR 0.41
- MetaSVM -0.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.43
- ClinVar: Pathogenic/Likely pathogenic (Early-onset progressive diffuse brain atrophy-microcephaly-muscl)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available