A16T (p.Ala16Thr) variant of TBCD (Tubulin-specific chaperone D)
A16T (p.Ala16Thr) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
A16T (p.Ala16Thr) variant details
- p.Ala16Thr
- ExAC rs769438572
- gnomAD rs769438572
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- REVEL 0.01
- CADD 19.60
- PolyPhen-2 0.01
- SIFT 0.24
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- Structural context available