R7G (p.Arg7Gly) variant of ATP1A2 (P50993)
R7G (p.Arg7Gly) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial hemiplegic migraine. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
R7G (p.Arg7Gly) variant details
- p.Arg7Gly
- rs761260548
- ClinGen CA343226909
- ClinVar RCV001058781
- ExAC rs761260548
- Uncertain significance
- Familial hemiplegic migraine
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- AlphaMissense 0.15
- MetaLR 0.54
- MetaSVM -0.13
- PolyPhen-2 0.10
- SIFT 0.03
- MutPred 0.28
- ClinVar: Uncertain significance (Familial hemiplegic migraine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)