P72L (p.Pro72Leu) variant of FUS (RNA-binding protein FUS)
P72L (p.Pro72Leu) in FUS (RNA-binding protein FUS) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Amyotrophic lateral sclerosis type 6; Tremor, hereditary essential, 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
P72L (p.Pro72Leu) variant details
- p.Pro72Leu
- rs2144107259
- ClinGen CA395666497
- ClinVar RCV001880616
- Ensembl rs2144107259
- Uncertain significance
- Amyotrophic lateral sclerosis type 6; Tremor, hereditary essential, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- AlphaMissense 0.23
- MetaLR 0.75
- MetaSVM 0.56
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.31
- ClinVar: Uncertain significance (Amyotrophic lateral sclerosis type 6; Tremor, hereditary essenti)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)