S27* (p.Ser27Ter) variant of FMR1 (Q06787)
S27* (p.Ser27Ter) in FMR1 (Q06787) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S27* (p.Ser27Ter) variant details
- p.Ser27Ter
- rs1569545382
- ClinGen CA414434492
- ClinVar RCV000022880
- Ensembl rs1569545382
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.773
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.593
- Cited in: A nonsense mutation in FMR1 causing fragile X syndrome. (PMID 21267007)
- Cited in: FMR1 Disorders. (PMID 20301558)