A38T (p.Ala38Thr) variant of ATP1A2 (P50993)
A38T (p.Ala38Thr) 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A38T (p.Ala38Thr) variant details
- p.Ala38Thr
- rs201688946
- ClinGen CA1194086
- ClinVar RCV001226214
- ClinVar RCV005909072
- Uncertain significance
- Familial hemiplegic migraine
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.15
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (Familial hemiplegic migraine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)