I4N (p.Ile4Asn) variant of TUBB3 (Tubulin beta-3 chain)
I4N (p.Ile4Asn) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
I4N (p.Ile4Asn) variant details
- p.Ile4Asn
- gnomAD 16-89923412-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- REVEL 0.83
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available