G132S (p.Gly132Ser) variant of SHANK2 (Q9UPX8)
G132S (p.Gly132Ser) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
G132S (p.Gly132Ser) variant details
- p.Gly132Ser
- TOPMed rs1313820918
- gnomAD rs1313820918
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- CADD 23.90
- PolyPhen-2 0.71
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)