A2G (p.Ala2Gly) variant of SMN1 (Survival motor neuron protein)
A2G (p.Ala2Gly) in SMN1 (Survival motor neuron protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Spinal muscular atrophy; not provided; Kugelberg-Welander disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
A2G (p.Ala2Gly) variant details
- p.Ala2Gly
- rs75030631
- gnomAD rs75030631
- UniProt VAR 005615
- Pathogenic
- Spinal muscular atrophy; not provided; Kugelberg-Welander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.61
- CADD 25.70
- PolyPhen-2 0.96
- SIFT 0.02
- ClinVar: Pathogenic (Spinal muscular atrophy; not provided; Kugelberg-Welander diseas)
- EBI: Pathogenic (in SMA2 and SMA3)
- UniProt: Pathogenic (in SMA2 and SMA3)
- Population evidence available
- Structural context available
- Cited in: Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal… (PMID 9837824)
- Cited in: Identification of a novel missense mutation of the SMN(T) gene in two siblings with spinal muscular atrophy. (PMID 10732802)