G22E (p.Gly22Glu) variant of SHANK2 (Q9UPX8)
G22E (p.Gly22Glu) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data.
G22E (p.Gly22Glu) variant details
- p.Gly22Glu
- TOPMed rs1214032004
- gnomAD rs1214032004
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the African/African-American population (allele frequency 7.2e-05)