P600R (p.Pro600Arg) variant of ATP1A1 (P05023)
P600R (p.Pro600Arg) in ATP1A1 (P05023) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Charcot-Marie-tooth disease, axonal, type 2DD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes structural context.
P600R (p.Pro600Arg) variant details
- p.Pro600Arg
- rs2101055022
- ClinGen CA341771637
- ClinVar RCV002248975
- Ensembl rs2101055022
- Likely pathogenic
- Charcot-Marie-tooth disease, axonal, type 2DD
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- AlphaMissense 0.94
- MetaLR 0.55
- MetaSVM 0.18
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.62
- ClinVar: Likely pathogenic (Charcot-Marie-tooth disease, axonal, type 2DD)
- EBI: Likely pathogenic (in CMT2DD)
- UniProt: Likely pathogenic (in CMT2DD)
- Structural context available