D68N (p.Asp68Asn) variant of ATP1A2 (P50993)
D68N (p.Asp68Asn) 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 0.41 / 1. The record also includes published literature and structural context.
D68N (p.Asp68Asn) variant details
- p.Asp68Asn
- rs1651476108
- ClinGen CA343230418
- ClinVar RCV003586718
- Uncertain significance
- Familial hemiplegic migraine
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- AlphaMissense 0.27
- MetaLR 0.37
- MetaSVM -0.23
- PolyPhen-2 0.49
- SIFT 0.01
- EVE 0.18
- ClinVar: Uncertain significance (Familial hemiplegic migraine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)