E18K (p.Glu18Lys) variant of SHANK1 (Q9Y566)
E18K (p.Glu18Lys) in SHANK1 (Q9Y566) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
E18K (p.Glu18Lys) variant details
- p.Glu18Lys
- rs200002234
- ExAC rs200002234
- TOPMed rs200002234
- gnomAD rs200002234
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.09
- MetaLR 0.04
- MetaSVM -1.06
- CADD 24.10
- PolyPhen-2 0.03
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.8e-05)
- Structural context available