G10R (p.Gly10Arg) variant of TBCD (Tubulin-specific chaperone D)
G10R (p.Gly10Arg) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
G10R (p.Gly10Arg) variant details
- p.Gly10Arg
- gnomAD 17-82752221-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.03
- CADD 21.40
- PolyPhen-2 0.16
- SIFT 0.01
- Most common in the 1KG:ESN population (allele frequency 0.13)
- Structural context available
- Literature evidence available