Q81L (p.Gln81Leu) variant of SMN1 (Survival motor neuron protein)
Q81L (p.Gln81Leu) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1.
Q81L (p.Gln81Leu) variant details
- p.Gln81Leu
- rs1580886807
- ClinGen CA360092989
- ClinVar RCV000993024
- Ensembl rs1580886807
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- AlphaMissense 0.12
- MetaLR 0.89
- MetaSVM 0.65
- SIFT 0.01
- MutPred 0.41
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance