S78L (p.Ser78Leu) variant of TUBB3 (Tubulin beta-3 chain)
S78L (p.Ser78Leu) in TUBB3 (Tubulin beta-3 chain) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular inv. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
S78L (p.Ser78Leu) variant details
- p.Ser78Leu
- ExAC rs777573566
- gnomAD rs777573566
- Likely pathogenic
- Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular inv
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.42
- CADD 26.80
- PolyPhen-2 0.46
- SIFT 0.05
- ClinVar: Likely pathogenic (Fibrosis of extraocular muscles, congenital, 3A, with or without)
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available