A111G (p.Ala111Gly) variant of SMN1 (Survival motor neuron protein)
A111G (p.Ala111Gly) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
A111G (p.Ala111Gly) variant details
- p.Ala111Gly
- rs104893935
- Ensembl rs104893935
- ClinGen CA254692
- ClinVar RCV000009754
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- AlphaMissense 0.38
- MetaLR 0.92
- MetaSVM 1.11
- SIFT 0.00
- MutPred 0.95
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in SMA2)
- UniProt: Pathogenic (in SMA2)
- Structural context available
- Cited in: Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy. (PMID 15580564)
- Cited in: HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects. (PMID 21088113)