R7P (p.Arg7Pro) variant of ATP1A2 (P50993)
R7P (p.Arg7Pro) 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 0.59 / 1. The record also includes published literature and structural context.
R7P (p.Arg7Pro) variant details
- p.Arg7Pro
- rs764755889
- ClinGen CA343226917
- ClinVar RCV002045520
- ExAC rs764755889
- Uncertain significance
- Familial hemiplegic migraine
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- AlphaMissense 0.28
- MetaLR 0.60
- MetaSVM 0.30
- PolyPhen-2 0.53
- SIFT 0.03
- MutPred 0.32
- ClinVar: Uncertain significance (Familial hemiplegic migraine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)