D44V (p.Asp44Val) variant of SMN1 (Survival motor neuron protein)
D44V (p.Asp44Val) 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 Kugelberg-Welander disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature.
D44V (p.Asp44Val) variant details
- p.Asp44Val
- rs104893931
- ClinGen CA254683
- ClinVar RCV000009745
- UniProt VAR 034804
- Pathogenic
- Kugelberg-Welander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.949
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.17
- SIFT 0.00
- MutPred 0.82
- ClinVar: Pathogenic (Kugelberg-Welander disease)
- EBI: Pathogenic (in SMA3)
- UniProt: Pathogenic (in SMA3)
- Cited in: Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy. (PMID 15580564)
- Cited in: Structure of a key intermediate of the SMN complex reveals Gemin2's crucial function in snRNP assembly. (PMID 21816274)