P7R (p.Pro7Arg) variant of TBCD (Tubulin-specific chaperone D)
P7R (p.Pro7Arg) in TBCD (Tubulin-specific chaperone D) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
P7R (p.Pro7Arg) variant details
- p.Pro7Arg
- gnomAD 17-82752211-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.236
- CADD 21.90
- Population evidence available
- Structural context available
- Literature evidence available