E25G (p.Glu25Gly) variant of SHANK1 (Q9Y566)
E25G (p.Glu25Gly) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
E25G (p.Glu25Gly) variant details
- p.Glu25Gly
- TOPMed rs2051257237
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.06
- MetaLR 0.07
- MetaSVM -1.04
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.19
- Population evidence available
- Structural context available