G23D (p.Gly23Asp) variant of SHANK1 (Q9Y566)
G23D (p.Gly23Asp) in SHANK1 (Q9Y566) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
G23D (p.Gly23Asp) variant details
- p.Gly23Asp
- TOPMed rs879093481
- gnomAD rs879093481
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.23
- MetaLR 0.04
- MetaSVM -1.06
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00011)
- Structural context available