G11S (p.Gly11Ser) variant of TBCD (Tubulin-specific chaperone D)
G11S (p.Gly11Ser) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
G11S (p.Gly11Ser) variant details
- p.Gly11Ser
- TOPMed rs1044663167
- gnomAD rs1044663167
- Missense
- Variant Prioritization Score for Impact Estimate 0.0619
- REVEL 0.00
- CADD 6.78
- PolyPhen-2 0.02
- SIFT 1.00
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.55)
- Structural context available