A22T (p.Ala22Thr) variant of TBCD (Tubulin-specific chaperone D)
A22T (p.Ala22Thr) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A22T (p.Ala22Thr) variant details
- p.Ala22Thr
- gnomAD 17-82752257-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.06
- CADD 9.81
- PolyPhen-2 0.04
- SIFT 0.25
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available