E111K (p.Glu111Lys) variant of TUBB2B (Tubulin beta-2B chain)
E111K (p.Glu111Lys) in TUBB2B (Tubulin beta-2B chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
E111K (p.Glu111Lys) variant details
- p.Glu111Lys
- rs1357714041
- NCI-TCGA Cosmic COSV9945
- gnomAD rs1357714041
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.76
- AlphaMissense 0.11
- MetaLR 0.11
- MetaSVM -0.93
- CADD 26.90
- PolyPhen-2 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available