S4R (p.Ser4Arg) variant of TBCD (Tubulin-specific chaperone D)
S4R (p.Ser4Arg) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
S4R (p.Ser4Arg) variant details
- p.Ser4Arg
- gnomAD rs1333992290
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.05
- CADD 14.90
- PolyPhen-2 0.13
- SIFT 0.09
- Population evidence available
- Structural context available