W931R (p.Trp931Arg) variant of ATP1A1 (P05023)
W931R (p.Trp931Arg) in ATP1A1 (P05023) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hypomagnesemia, seizures, and intellectual disability 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes structural context.
W931R (p.Trp931Arg) variant details
- p.Trp931Arg
- rs1570980551
- ClinGen CA341775664
- ClinVar RCV000845571
- Ensembl rs1570980551
- Pathogenic
- Hypomagnesemia, seizures, and intellectual disability 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.932
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.75
- ClinVar: Pathogenic (Hypomagnesemia, seizures, and intellectual disability 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available