G31D (p.Gly31Asp) variant of TBCD (Tubulin-specific chaperone D)
G31D (p.Gly31Asp) 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 Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
G31D (p.Gly31Asp) variant details
- p.Gly31Asp
- rs1169464820
- ClinGen CA401622308
- ClinVar RCV001919467
- ClinVar RCV005749922
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.01
- CADD 21.70
- PolyPhen-2 0.08
- SIFT 0.60
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.12)
- 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)