S75L (p.Ser75Leu) variant of TUBB2B (Tubulin beta-2B chain)
S75L (p.Ser75Leu) in TUBB2B (Tubulin beta-2B chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes structural context.
S75L (p.Ser75Leu) variant details
- p.Ser75Leu
- rs1043113503
- NCI-TCGA Cosmic COSV5253
- TOPMed rs1043113503
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- AlphaMissense 0.71
- MetaLR 0.35
- MetaSVM -0.27
- PolyPhen-2 0.33
- EVE 0.42
- MutPred 0.65
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Structural context available