R35* (p.Arg35Ter) variant of SHANK1 (Q9Y566)
R35* (p.Arg35Ter) in SHANK1 (Q9Y566) 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 0.44 / 1. The record also includes population frequency data and structural context.
R35* (p.Arg35Ter) variant details
- p.Arg35Ter
- rs267605598
- ClinVar RCV006452131
- gnomAD rs267605598
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.443
- CADD 33.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available