G22R (p.Gly22Arg) variant of SHANK2 (Q9UPX8)
G22R (p.Gly22Arg) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data.
G22R (p.Gly22Arg) variant details
- p.Gly22Arg
- TOPMed rs1555106901
- gnomAD rs1555106901
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- CADD 23.40
- PolyPhen-2 0.23
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)