A9P (p.Ala9Pro) variant of TBCD (Tubulin-specific chaperone D)
A9P (p.Ala9Pro) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
A9P (p.Ala9Pro) variant details
- p.Ala9Pro
- TOPMed rs1482289223
- gnomAD rs1482289223
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.16
- CADD 21.30
- PolyPhen-2 0.56
- SIFT 0.16
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.12)
- Structural context available