G10D (p.Gly10Asp) variant of TBCD (Tubulin-specific chaperone D)
G10D (p.Gly10Asp) in TBCD (Tubulin-specific chaperone D) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
G10D (p.Gly10Asp) variant details
- p.Gly10Asp
- rs533171147
- ClinGen CA8861496
- ClinVar RCV001329506
- ClinVar RCV003770818
- Conflicting interpretations
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.01
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Early-onset progressive diffuse brain atrophy-microcephaly-muscl)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:JAPANESE population (allele frequency 1)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)