P221L (p.Pro221Leu) variant of SMN1 (Survival motor neuron protein)
P221L (p.Pro221Leu) in SMN1 (Survival motor neuron protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Spinal muscular atrophy, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and published literature.
P221L (p.Pro221Leu) variant details
- p.Pro221Leu
- rs1336155324
- gnomAD rs1336155324
- ClinGen CA360096119
- ClinVar RCV000785796
- Uncertain significance
- Spinal muscular atrophy, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- AlphaMissense 0.11
- MetaLR 0.23
- MetaSVM -0.86
- SIFT 0.50
- MutPred 0.42
- ClinVar: Uncertain significance (Spinal muscular atrophy, type II)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Cited in: Consensus statement for standard of care in spinal muscular atrophy. (PMID 17761659)
- Cited in: Spinal Muscular Atrophy. (PMID 20301526)