R62Q (p.Arg62Gln) variant of TUBB3 (Tubulin beta-3 chain)
R62Q (p.Arg62Gln) in TUBB3 (Tubulin beta-3 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R62Q (p.Arg62Gln) variant details
- p.Arg62Gln
- rs864321714
- ClinGen CA347966
- NCI-TCGA Cosmic COSV5924
- cosmic curated COSV59248
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.89
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- 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: Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. (PMID 20074521)
- Cited in: Congenital Fibrosis of the Extraocular Muscles Overview. (PMID 20301522)