R77C (p.Arg77Cys) variant of TUBB3 (Tubulin beta-3 chain)
R77C (p.Arg77Cys) 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 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, published literature, and structural context.
R77C (p.Arg77Cys) variant details
- p.Arg77Cys
- rs2030345139
- ClinGen CA397471310
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10020
- Uncertain significance
- Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular inv
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.59
- CADD 27.50
- PolyPhen-2 0.21
- SIFT 0.01
- ClinVar: Uncertain significance (Fibrosis of extraocular muscles, congenital, 3A, with or without)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Congenital Fibrosis of the Extraocular Muscles Overview. (PMID 20301522)