E24D (p.Glu24Asp) variant of SHANK2 (Q9UPX8)
E24D (p.Glu24Asp) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data.
E24D (p.Glu24Asp) variant details
- p.Glu24Asp
- TOPMed rs1952671752
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the Non-Finnish European population (allele frequency 8.3e-06)