G102S (p.Gly102Ser) variant of SHANK2 (Q9UPX8)
G102S (p.Gly102Ser) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data.
G102S (p.Gly102Ser) variant details
- p.Gly102Ser
- TOPMed rs1377679556
- gnomAD rs1377679556
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.5e-05)