P7L (p.Pro7Leu) variant of TBCD (Tubulin-specific chaperone D)
P7L (p.Pro7Leu) 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.
P7L (p.Pro7Leu) variant details
- p.Pro7Leu
- gnomAD 17-82752213-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.04
- CADD 16.00
- PolyPhen-2 0.30
- SIFT 0.18
- Most common in the HGDP:JAPANESE population (allele frequency 1)
- Structural context available
- Literature evidence available