R262C (p.Arg262Cys) variant of TUBB3 (Tubulin beta-3 chain)
R262C (p.Arg262Cys) in TUBB3 (Tubulin beta-3 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital fibrosis of extraocular muscles; not provided; Fibrosis of extraocula. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R262C (p.Arg262Cys) variant details
- p.Arg262Cys
- rs267607162
- ClinGen CA340618
- ClinVar RCV000007378
- ClinVar RCV000254974
- Pathogenic
- Congenital fibrosis of extraocular muscles; not provided; Fibrosis of extraocula
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.87
- CADD 28.50
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Pathogenic (Congenital fibrosis of extraocular muscles; not provided; Fibros)
- EBI: Pathogenic (in CFEOM3A)
- UniProt: Pathogenic (in CFEOM3A)
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3. (PMID 10393037)
- Cited in: Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus. (PMID 12073023)