D5H (p.Asp5His) variant of TBCD (Tubulin-specific chaperone D)
D5H (p.Asp5His) 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.
D5H (p.Asp5His) variant details
- p.Asp5His
- Ensembl rs1354004393
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.11
- CADD 15.60
- PolyPhen-2 0.05
- SIFT 0.01
- Most common in the 1KG:STU population (allele frequency 0.37)
- Structural context available