N126K (p.Asn126Lys) variant of TUBB3 (Tubulin beta-3 chain)
N126K (p.Asn126Lys) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
N126K (p.Asn126Lys) variant details
- p.Asn126Lys
- gnomAD rs1597424672
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.12
- CADD 17.50
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available