E19K (p.Glu19Lys) variant of TBCD (Tubulin-specific chaperone D)
E19K (p.Glu19Lys) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
E19K (p.Glu19Lys) variant details
- p.Glu19Lys
- TOPMed rs1348366650
- gnomAD rs1348366650
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.02
- CADD 17.90
- PolyPhen-2 0.03
- SIFT 0.15
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available