R123L (p.Arg123Leu) variant of SHANK2 (Q9UPX8)
R123L (p.Arg123Leu) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
R123L (p.Arg123Leu) variant details
- p.Arg123Leu
- 1000Genomes rs561592558
- ExAC rs561592558
- TOPMed rs561592558
- gnomAD rs561592558
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- CADD 21.20
- PolyPhen-2 0.05
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)