G42D (p.Gly42Asp) variant of SHANK1 (Q9Y566)
G42D (p.Gly42Asp) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
G42D (p.Gly42Asp) variant details
- p.Gly42Asp
- TOPMed rs1337761678
- gnomAD rs1337761678
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.23
- MetaLR 0.12
- MetaSVM -0.93
- CADD 22.20
- PolyPhen-2 0.92
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available