E15del (p.Glu15del) variant of TBCD (Tubulin-specific chaperone D)
E15del (p.Glu15del) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
E15del (p.Glu15del) variant details
- rs1209134139
- gnomAD 17-82752229-CGAG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.188
- CADD 15.10
- Most common in the HGDP:BIAKA population (allele frequency 0.32)
- Structural context available
- Literature evidence available