A22V (p.Ala22Val) variant of TBCD (Tubulin-specific chaperone D)
A22V (p.Ala22Val) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- TOPMed rs1253057697
- gnomAD rs1253057697
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- REVEL 0.02
- CADD 9.57
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the Latino/Admixed American population (allele frequency 5.6e-05)
- Structural context available