G138D (p.Gly138Asp) variant of SMC1A (Q14683)
G138D (p.Gly138Asp) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of History of neurodevelopmental disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes structural context.
G138D (p.Gly138Asp) variant details
- p.Gly138Asp
- rs1569359134
- ClinGen CA413259596
- ClinVar RCV000721092
- Ensembl rs1569359134
- Uncertain significance
- History of neurodevelopmental disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.59
- MetaSVM 0.46
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (History of neurodevelopmental disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available