W88* (p.Trp88Ter) variant of CHRNA4 (P43681)
W88* (p.Trp88Ter) in CHRNA4 (P43681) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and published literature.
W88* (p.Trp88Ter) variant details
- p.Trp88Ter
- rs2145401994
- ClinGen CA409641446
- ClinVar RCV002048254
- Ensembl rs2145401994
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.828
- CADD 37.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)