I7N (p.Ile7Asn) variant of TUBB3 (Tubulin beta-3 chain)
I7N (p.Ile7Asn) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
I7N (p.Ile7Asn) variant details
- p.Ile7Asn
- gnomAD 16-89923421-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.55
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available