E9K (p.Glu9Lys) variant of SHANK2 (Q9UPX8)
E9K (p.Glu9Lys) 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.
E9K (p.Glu9Lys) variant details
- p.Glu9Lys
- 1000Genomes rs558310216
- ExAC rs558310216
- gnomAD rs558310216
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- CADD 24.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the 1KG:FIN population (allele frequency 0.0051)