E25K (p.Glu25Lys) variant of SHANK1 (Q9Y566)
E25K (p.Glu25Lys) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E25K (p.Glu25Lys) variant details
- p.Glu25Lys
- TOPMed rs2089076251
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.08
- MetaLR 0.06
- MetaSVM -0.94
- CADD 23.30
- PolyPhen-2 0.12
- SIFT 0.01
- Population evidence available
- Structural context available