P600A (p.Pro600Ala) variant of ATP1A1 (P05023)
P600A (p.Pro600Ala) in ATP1A1 (P05023) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.52 / 1. The record also includes published literature and structural context.
P600A (p.Pro600Ala) variant details
- p.Pro600Ala
- rs1553192091
- ClinGen CA341771634
- ClinVar RCV000656713
- ClinVar RCV003311871
- Pathogenic
- Charcot-Marie-tooth disease, axonal, type 2DD; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- AlphaMissense 0.82
- MetaLR 0.46
- MetaSVM -0.01
- PolyPhen-2 0.94
- SIFT 0.00
- MutPred 0.62
- ClinVar: Pathogenic (Charcot-Marie-tooth disease, axonal, type 2DD; 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)