E118D (p.Glu118Asp) variant of SHANK2 (Q9UPX8)
E118D (p.Glu118Asp) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data.
E118D (p.Glu118Asp) variant details
- p.Glu118Asp
- cosmic curated COSV58321
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- CADD 22.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3.2e-05)