A8V (p.Ala8Val) variant of TBCD (Tubulin-specific chaperone D)
A8V (p.Ala8Val) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- TOPMed rs1473086651
- gnomAD rs1473086651
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.03
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the HGDP:JAPANESE population (allele frequency 1)
- Structural context available