P7Q (p.Pro7Gln) variant of TBCD (Tubulin-specific chaperone D)
P7Q (p.Pro7Gln) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
P7Q (p.Pro7Gln) variant details
- p.Pro7Gln
- gnomAD rs1291478820
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.05
- CADD 19.50
- PolyPhen-2 0.72
- SIFT 0.16
- Population evidence available
- Structural context available