G78D (p.Gly78Asp) variant of SHANK1 (Q9Y566)
G78D (p.Gly78Asp) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
G78D (p.Gly78Asp) variant details
- p.Gly78Asp
- Ensembl rs2089073325
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.28
- MetaLR 0.22
- MetaSVM -0.75
- CADD 25.60
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available