G22A (p.Gly22Ala) variant of SHANK2 (Q9UPX8)
G22A (p.Gly22Ala) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data.
G22A (p.Gly22Ala) variant details
- p.Gly22Ala
- TOPMed rs1214032004
- gnomAD rs1214032004
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- CADD 22.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)