P7S (p.Pro7Ser) variant of TBCD (Tubulin-specific chaperone D)
P7S (p.Pro7Ser) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P7S (p.Pro7Ser) variant details
- p.Pro7Ser
- gnomAD 17-82752212-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.02
- CADD 13.10
- PolyPhen-2 0.01
- SIFT 0.27
- Most common in the 1KG:STU population (allele frequency 0.37)
- Structural context available
- Literature evidence available