Q64H (p.Gln64His) variant of ATP1A2 (P50993)
Q64H (p.Gln64His) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided; Migraine, familial hemiplegic, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
Q64H (p.Gln64His) variant details
- p.Gln64His
- rs796052282
- ClinGen CA313349
- ClinVar RCV000186812
- ClinVar RCV000764992
- Uncertain significance
- Inborn genetic diseases; not provided; Migraine, familial hemiplegic, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.27
- CADD 23.00
- PolyPhen-2 0.39
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Migraine, familial hemipl)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)