G45S (p.Gly45Ser) variant of SHANK2 (Q9UPX8)
G45S (p.Gly45Ser) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data.
G45S (p.Gly45Ser) variant details
- p.Gly45Ser
- TOPMed rs1233748147
- gnomAD rs1233748147
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- CADD 13.10
- Most common in the African/African-American population (allele frequency 9.7e-05)