S25G (p.Ser25Gly) variant of TUBB2B (Tubulin beta-2B chain)
S25G (p.Ser25Gly) in TUBB2B (Tubulin beta-2B chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Lissencephaly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes structural context.
S25G (p.Ser25Gly) variant details
- p.Ser25Gly
- rs1757291106
- ClinGen CA362590020
- ClinVar RCV001291308
- Ensembl rs1757291106
- Uncertain significance
- Lissencephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- AlphaMissense 0.28
- MetaLR 0.26
- MetaSVM -0.50
- PolyPhen-2 0.00
- EVE 0.57
- MutPred 0.68
- ClinVar: Uncertain significance (Lissencephaly)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available