D10E (p.Asp10Glu) variant of SHANK2 (Q9UPX8)
D10E (p.Asp10Glu) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data.
D10E (p.Asp10Glu) variant details
- p.Asp10Glu
- TOPMed rs1325712787
- gnomAD rs1325712787
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- CADD 15.90
- PolyPhen-2 0.20
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)