D128N (p.Asp128Asn) variant of TUBB3 (Tubulin beta-3 chain)
D128N (p.Asp128Asn) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
D128N (p.Asp128Asn) variant details
- p.Asp128Asn
- TOPMed rs998987819
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.78
- CADD 31.00
- PolyPhen-2 0.91
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available