Q14* (p.Gln14Ter) variant of SHANK2 (Q9UPX8)
Q14* (p.Gln14Ter) in SHANK2 (Q9UPX8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data.
Q14* (p.Gln14Ter) variant details
- p.Gln14Ter
- gnomAD rs1555106911
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.835
- CADD 40.00
- Most common in the African/African-American population (allele frequency 2.4e-05)