T15M (p.Thr15Met) variant of ATP1A2 (P50993)
T15M (p.Thr15Met) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Familial hemiplegic migraine; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
T15M (p.Thr15Met) variant details
- p.Thr15Met
- rs371257019
- ClinGen CA1194078
- cosmic curated COSV10526
- ClinVar RCV000430842
- Conflicting interpretations
- Inborn genetic diseases; Familial hemiplegic migraine; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.21
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Familial hemiplegic migraine; not provi)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- 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)