G56C (p.Gly56Cys) variant of SHANK1 (Q9Y566)
G56C (p.Gly56Cys) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G56C (p.Gly56Cys) variant details
- p.Gly56Cys
- 1000Genomes rs201399581
- ExAC rs201399581
- gnomAD rs201399581
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.18
- MetaLR 0.07
- MetaSVM -1.08
- CADD 25.40
- PolyPhen-2 0.67
- SIFT 0.02
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available