D5A (p.Asp5Ala) variant of TBCD (Tubulin-specific chaperone D)
D5A (p.Asp5Ala) in TBCD (Tubulin-specific chaperone D) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
D5A (p.Asp5Ala) variant details
- p.Asp5Ala
- rs1255483538
- gnomAD 17-82752849-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.0908
- CADD 1.44
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available