A5S (p.Ala5Ser) variant of ATP1A2 (P50993)
A5S (p.Ala5Ser) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A5S (p.Ala5Ser) variant details
- p.Ala5Ser
- rs776180843
- ClinGen CA1194072
- ClinVar RCV003030380
- ExAC rs776180843
- Uncertain significance
- Familial hemiplegic migraine
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.24
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.70
- ClinVar: Uncertain significance (Familial hemiplegic migraine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00029)
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)