G24A (p.Gly24Ala) variant of TBCD (Tubulin-specific chaperone D)
G24A (p.Gly24Ala) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
G24A (p.Gly24Ala) variant details
- p.Gly24Ala
- gnomAD 17-82752264-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.02
- CADD 11.20
- PolyPhen-2 0.01
- SIFT 0.22
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available