D68Y (p.Asp68Tyr) variant of ATP1A2 (P50993)
D68Y (p.Asp68Tyr) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; 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.
D68Y (p.Asp68Tyr) variant details
- p.Asp68Tyr
- rs1651476108
- ClinGen CA343230424
- ClinVar RCV001205050
- ClinVar RCV004768916
- Uncertain significance
- not provided; 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 (not provided; Familial hemiplegic migraine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)