D5N (p.Asp5Asn) variant of TBCD (Tubulin-specific chaperone D)
D5N (p.Asp5Asn) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
D5N (p.Asp5Asn) variant details
- p.Asp5Asn
- gnomAD 17-82752206-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0968
- REVEL 0.06
- CADD 10.70
- PolyPhen-2 0.00
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available