E124K (p.Glu124Lys) variant of SHANK2 (Q9UPX8)
E124K (p.Glu124Lys) 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.
E124K (p.Glu124Lys) variant details
- p.Glu124Lys
- TOPMed rs1300066048
- gnomAD rs1300066048
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- CADD 24.10
- PolyPhen-2 0.51
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)