E51D (p.Glu51Asp) variant of SHANK2 (Q9UPX8)
E51D (p.Glu51Asp) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data.
E51D (p.Glu51Asp) variant details
- p.Glu51Asp
- gnomAD rs1555106864
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Latino/Admixed American population (allele frequency 0.00011)