E137Q (p.Glu137Gln) variant of SHANK2 (Q9UPX8)
E137Q (p.Glu137Gln) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data.
E137Q (p.Glu137Gln) variant details
- p.Glu137Gln
- gnomAD rs1555100871
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- CADD 24.00
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.8e-05)