P106R (p.Pro106Arg) variant of SHANK2 (Q9UPX8)
P106R (p.Pro106Arg) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data.
P106R (p.Pro106Arg) variant details
- p.Pro106Arg
- 1000Genomes rs545370532
- ExAC rs545370532
- TOPMed rs545370532
- gnomAD rs545370532
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- CADD 25.50
- Most common in the 1KG:KHV population (allele frequency 0.005)