K43* (p.Lys43Ter) variant of SHANK2 (Q9UPX8)
K43* (p.Lys43Ter) in SHANK2 (Q9UPX8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data.
K43* (p.Lys43Ter) variant details
- p.Lys43Ter
- cosmic curated COSV58347
- gnomAD rs1555106882
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.535
- CADD 37.00
- Most common in the East Asian population (allele frequency 5.6e-05)