N14I (p.Asn14Ile) variant of TUBB3 (Tubulin beta-3 chain)
N14I (p.Asn14Ile) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
N14I (p.Asn14Ile) variant details
- p.Asn14Ile
- gnomAD 16-89923442-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.75
- CADD 32.00
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available