G900R (p.Gly900Arg) variant of ATP1A2 (P50993)
G900R (p.Gly900Arg) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Migraine, familial hemiplegic, 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes structural context.
G900R (p.Gly900Arg) variant details
- p.Gly900Arg
- rs1553245908
- ClinGen CA343252323
- ClinVar RCV000516459
- Ensembl rs1553245908
- Likely pathogenic
- Migraine, familial hemiplegic, 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- AlphaMissense 0.76
- MetaLR 0.57
- MetaSVM 0.39
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.80
- ClinVar: Likely pathogenic (Migraine, familial hemiplegic, 2; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available