G113S (p.Gly113Ser) variant of SHANK2 (Q9UPX8)
G113S (p.Gly113Ser) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data.
G113S (p.Gly113Ser) variant details
- p.Gly113Ser
- ExAC rs782517914
- TOPMed rs782517914
- gnomAD rs782517914
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- CADD 24.50
- PolyPhen-2 0.45
- SIFT 0.12
- Most common in the East Asian population (allele frequency 5.6e-05)