Q43* (p.Gln43Ter) variant of OPTN (Optineurin)
Q43* (p.Gln43Ter) in OPTN (Optineurin) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
Q43* (p.Gln43Ter) variant details
- p.Gln43Ter
- rs934287314
- ClinGen CA203254276
- ClinVar RCV000578674
- ClinVar RCV001860012
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.88
- CADD 40.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)