D30N (p.Asp30Asn) variant of SMN1 (Survival motor neuron protein)
D30N (p.Asp30Asn) 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, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
D30N (p.Asp30Asn) variant details
- p.Asp30Asn
- rs104893930
- ClinGen CA254688
- ClinVar RCV000009752
- UniProt VAR 034803
- Pathogenic
- Spinal muscular atrophy, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- AlphaMissense 0.62
- MetaLR 0.97
- MetaSVM 1.11
- SIFT 0.10
- MutPred 0.72
- ClinVar: Pathogenic (Spinal muscular atrophy, type II)
- 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: Identification of a novel missense mutation of the SMN(T) gene in two siblings with spinal muscular atrophy. (PMID 10732802)