R123H (p.Arg123His) variant of SHANK2 (Q9UPX8)
R123H (p.Arg123His) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
R123H (p.Arg123His) variant details
- p.Arg123His
- 1000Genomes rs561592558
- ExAC rs561592558
- TOPMed rs561592558
- gnomAD rs561592558
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- CADD 23.30
- PolyPhen-2 0.67
- SIFT 0.00
- Most common in the 1KG:BEB population (allele frequency 0.0051)