W81* (p.Trp81Ter) variant of SHANK2 (Q9UPX8)
W81* (p.Trp81Ter) in SHANK2 (Q9UPX8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data.
W81* (p.Trp81Ter) variant details
- p.Trp81Ter
- TOPMed rs1164911385
- gnomAD rs1164911385
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.827
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)