E15A (p.Glu15Ala) variant of TBCD (Tubulin-specific chaperone D)
E15A (p.Glu15Ala) in TBCD (Tubulin-specific chaperone D) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
E15A (p.Glu15Ala) variant details
- p.Glu15Ala
- ExAC rs761196902
- gnomAD rs761196902
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0826
- REVEL 0.01
- CADD 12.30
- PolyPhen-2 0.00
- SIFT 0.39
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available