S115L (p.Ser115Leu) variant of TUBB3 (Tubulin beta-3 chain)
S115L (p.Ser115Leu) in TUBB3 (Tubulin beta-3 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Complex cortical dysplasia with other brain malformations 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
S115L (p.Ser115Leu) variant details
- p.Ser115Leu
- rs2544627103
- ClinGen CA397474258
- ClinVar RCV003482197
- Uncertain significance
- Complex cortical dysplasia with other brain malformations 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.44
- CADD 25.60
- PolyPhen-2 0.23
- SIFT 0.00
- ClinVar: Uncertain significance (Complex cortical dysplasia with other brain malformations 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)