G549R (p.Gly549Arg) variant of ATP1A1 (P05023)
G549R (p.Gly549Arg) in ATP1A1 (P05023) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Charcot-Marie-tooth disease, axonal, type 2DD; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes structural context.
G549R (p.Gly549Arg) variant details
- p.Gly549Arg
- rs2101052251
- ClinGen CA341771276
- cosmic curated COSV55191
- ClinVar RCV001732236
- Pathogenic/Likely pathogenic
- Charcot-Marie-tooth disease, axonal, type 2DD; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- AlphaMissense 1.00
- MetaLR 0.88
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.83
- ClinVar: Pathogenic/Likely pathogenic (Charcot-Marie-tooth disease, axonal, type 2DD; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available