R120Q (p.Arg120Gln) variant of SHANK2 (Q9UPX8)
R120Q (p.Arg120Gln) 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.
R120Q (p.Arg120Gln) variant details
- p.Arg120Gln
- ExAC rs782338107
- TOPMed rs782338107
- gnomAD rs782338107
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- CADD 25.00
- PolyPhen-2 0.90
- SIFT 0.04
- Most common in the East Asian population (allele frequency 0.00019)