R139* (p.Arg139Ter) variant of SHANK2 (Q9UPX8)
R139* (p.Arg139Ter) in SHANK2 (Q9UPX8) 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 0.71 / 1. The record also includes population frequency data.
R139* (p.Arg139Ter) variant details
- p.Arg139Ter
- rs1205314621
- ClinGen CA381962015
- cosmic curated COSV58321
- ClinVar RCV002292839
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.714
- CADD 39.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)