D18N (p.Asp18Asn) variant of TBCD (Tubulin-specific chaperone D)
D18N (p.Asp18Asn) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
D18N (p.Asp18Asn) variant details
- p.Asp18Asn
- ExAC rs762541329
- TOPMed rs762541329
- gnomAD rs762541329
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.04
- CADD 22.80
- PolyPhen-2 0.02
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available