G279S (p.Gly279Ser) variant of SMN1 (Survival motor neuron protein)
G279S (p.Gly279Ser) in SMN1 (Survival motor neuron protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in SMA1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
G279S (p.Gly279Ser) variant details
- p.Gly279Ser
- rs752716074
- ExAC rs752716074
- gnomAD rs752716074
- ClinGen CA3294939
- Uncertain significance
- in SMA1
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.88
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.04
- EBI: Variant of uncertain significance (in SMA1)
- UniProt: Uncertain significance (in SMA1)
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available