A8P (p.Ala8Pro) variant of TBCD (Tubulin-specific chaperone D)
A8P (p.Ala8Pro) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A8P (p.Ala8Pro) variant details
- p.Ala8Pro
- rs1019523934
- gnomAD 17-82752852-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- CADD 5.45
- Most common in the HGDP:MBUTI population (allele frequency 0.96)
- Structural context available
- Literature evidence available