E11K (p.Glu11Lys) variant of SHANK2 (Q9UPX8)
E11K (p.Glu11Lys) 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.
E11K (p.Glu11Lys) variant details
- p.Glu11Lys
- TOPMed rs1369198408
- gnomAD rs1369198408
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- CADD 24.70
- PolyPhen-2 0.56
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)