E9V (p.Glu9Val) variant of SHANK1 (Q9Y566)
E9V (p.Glu9Val) in SHANK1 (Q9Y566) 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 and structural context.
E9V (p.Glu9Val) variant details
- p.Glu9Val
- ExAC rs775904234
- gnomAD rs775904234
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.16
- MetaLR 0.06
- MetaSVM -0.95
- CADD 23.80
- PolyPhen-2 0.17
- SIFT 0.00
- Population evidence available
- Structural context available