Q154* (p.Gln154Ter) variant of SHANK2 (Q9UPX8)
Q154* (p.Gln154Ter) in SHANK2 (Q9UPX8) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data.
Q154* (p.Gln154Ter) variant details
- p.Gln154Ter
- rs1327654017
- ClinGen CA381961911
- ClinVar RCV002221858
- ClinVar RCV005861280
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.829
- CADD 41.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)