G10C (p.Gly10Cys) variant of TBCD (Tubulin-specific chaperone D)
G10C (p.Gly10Cys) in TBCD (Tubulin-specific chaperone D) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided; not specified; Early-onset progressive diffuse brain atrophy-micro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
G10C (p.Gly10Cys) variant details
- p.Gly10Cys
- rs11550062
- ClinGen CA8861495
- cosmic curated COSV56181
- ClinVar RCV001517315
- Benign
- not provided; not specified; Early-onset progressive diffuse brain atrophy-micro
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.06
- CADD 23.20
- PolyPhen-2 0.52
- SIFT 0.05
- ClinVar: Benign (not provided; not specified; Early-onset progressive diffuse bra)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:STU population (allele frequency 0.37)
- Structural context available