K19Q (p.Lys19Gln) variant of TUBB2B (Tubulin beta-2B chain)
K19Q (p.Lys19Gln) in TUBB2B (Tubulin beta-2B chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes structural context.
K19Q (p.Lys19Gln) variant details
- p.Lys19Gln
- rs1057517932
- ClinGen CA16042649
- ClinVar RCV000414164
- Ensembl rs1057517932
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- AlphaMissense 0.95
- MetaLR 0.21
- MetaSVM -0.59
- PolyPhen-2 0.01
- EVE 0.42
- MutPred 0.63
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available