E6K (p.Glu6Lys) variant of TBCD (Tubulin-specific chaperone D)
E6K (p.Glu6Lys) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
E6K (p.Glu6Lys) variant details
- p.Glu6Lys
- TOPMed rs1010575243
- gnomAD rs1010575243
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.05
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.77
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available