G22E (p.Gly22Glu) variant of SHANK1 (Q9Y566)
G22E (p.Gly22Glu) 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.
G22E (p.Gly22Glu) variant details
- p.Gly22Glu
- ExAC rs779915796
- gnomAD rs779915796
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.21
- MetaLR 0.04
- MetaSVM -1.06
- CADD 20.40
- PolyPhen-2 0.13
- SIFT 0.05
- Most common in the South Asian population (allele frequency 4e-05)
- Structural context available