E152* (p.Glu152Ter) variant of SHANK2 (Q9UPX8)
E152* (p.Glu152Ter) 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 0.84 / 1. The record also includes population frequency data.
E152* (p.Glu152Ter) variant details
- p.Glu152Ter
- rs1555099768
- ClinGen CA381961927
- ClinVar RCV000523113
- Ensembl rs1555099768
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.835
- CADD 41.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)