G275D (p.Gly275Asp) variant of SMN1 (Survival motor neuron protein)
G275D (p.Gly275Asp) in SMN1 (Survival motor neuron protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
G275D (p.Gly275Asp) variant details
- p.Gly275Asp
- rs1561500920
- Ensembl rs1561500920
- ClinGen CA360097300
- ClinVar RCV000785799
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.968
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.91
- SIFT 0.00
- MutPred 0.95
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in SMA3)
- UniProt: Likely pathogenic (in SMA3)
- Structural context available