G279D (p.Gly279Asp) variant of SMN1 (Survival motor neuron protein)
G279D (p.Gly279Asp) in SMN1 (Survival motor neuron protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Spinal muscular atrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
G279D (p.Gly279Asp) variant details
- p.Gly279Asp
- rs76163360
- Ensembl rs76163360
- ClinGen CA360098107
- ClinVar RCV001192808
- Uncertain significance
- Spinal muscular atrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.94
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic (in SMA1)
- UniProt: Pathogenic (in SMA1)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available