G325D (p.Gly325Asp) variant of ATP1A3 (P13637)
G325D (p.Gly325Asp) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
G325D (p.Gly325Asp) variant details
- p.Gly325Asp
- rs863224847
- ClinGen CA279013
- ClinVar RCV000199314
- ClinVar RCV003319333
- Pathogenic/Likely pathogenic
- not provided; Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Pathogenic/Likely pathogenic (not provided; Cerebellar ataxia-areflexia-pes cavus-optic atroph)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)