D140V (p.Asp140Val) variant of SMN1 (Survival motor neuron protein)
D140V (p.Asp140Val) in SMN1 (Survival motor neuron protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Spinal muscular atrophy; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature.
D140V (p.Asp140Val) variant details
- p.Asp140Val
- rs1554081968
- ClinGen CA16616716
- ClinVar RCV000516973
- ClinVar RCV000785809
- Conflicting interpretations
- Spinal muscular atrophy; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- AlphaMissense 0.42
- MetaLR 0.97
- MetaSVM 1.09
- SIFT 0.00
- MutPred 0.86
- ClinVar: Conflicting classifications of pathogenicity (Spinal muscular atrophy; not specified; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Consensus statement for standard of care in spinal muscular atrophy. (PMID 17761659)
- Cited in: ACOG committee opinion No. 432: spinal muscular atrophy. (PMID 19384151)