S4C (p.Ser4Cys) variant of TBCD (Tubulin-specific chaperone D)
S4C (p.Ser4Cys) in TBCD (Tubulin-specific chaperone D) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.14 / 1. The record also includes population frequency data and structural context.
S4C (p.Ser4Cys) variant details
- p.Ser4Cys
- rs2510347955
- ClinGen CA401622133
- ClinVar RCV002471788
- Uncertain significance
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.12
- CADD 14.80
- PolyPhen-2 0.43
- SIFT 0.04
- ClinVar: Uncertain significance (Early-onset progressive diffuse brain atrophy-microcephaly-muscl)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.96)
- Structural context available