L48R (p.Leu48Arg) variant of ATP1A1 (P05023)
L48R (p.Leu48Arg) in ATP1A1 (P05023) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
L48R (p.Leu48Arg) variant details
- p.Leu48Arg
- rs1553190285
- ClinGen CA341840480
- ClinVar RCV000656712
- ClinVar RCV001092891
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- AlphaMissense 0.24
- MetaLR 0.62
- MetaSVM 0.47
- PolyPhen-2 0.76
- SIFT 0.04
- MutPred 0.56
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in CMT2DD)
- UniProt: Pathogenic (in CMT2DD)
- Structural context available
- Cited in: Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2. (PMID 29499166)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)