E334G (p.Glu334Gly) variant of ATP1A1 (P05023)
E334G (p.Glu334Gly) 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 0.94 / 1. The record also includes structural context.
E334G (p.Glu334Gly) variant details
- p.Glu334Gly
- rs2101045655
- ClinGen CA341844201
- ClinVar RCV001528137
- Ensembl rs2101045655
- Likely pathogenic
- Charcot-Marie-tooth disease, axonal, type 2DD
- Missense
- Variant Prioritization Score for Impact Estimate 0.936
- AlphaMissense 0.98
- MetaLR 0.91
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.90
- ClinVar: Likely pathogenic (Charcot-Marie-tooth disease, axonal, type 2DD)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available