N14K (p.Asn14Lys) variant of TUBB3 (Tubulin beta-3 chain)
N14K (p.Asn14Lys) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
N14K (p.Asn14Lys) variant details
- p.Asn14Lys
- gnomAD 16-89923443-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.75
- CADD 29.90
- PolyPhen-2 0.90
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available