G11R (p.Gly11Arg) variant of TBCD (Tubulin-specific chaperone D)
G11R (p.Gly11Arg) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
G11R (p.Gly11Arg) variant details
- p.Gly11Arg
- TOPMed rs1044663167
- gnomAD rs1044663167
- Missense
- Variant Prioritization Score for Impact Estimate 0.0722
- REVEL 0.01
- CADD 11.80
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- Structural context available