A297T (p.Ala297Thr) variant of ATP1A2 (P50993)
A297T (p.Ala297Thr) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of ATP1A2-related disorder; Developmental and epileptic encephalopathy 98; Familial. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
A297T (p.Ala297Thr) variant details
- p.Ala297Thr
- rs181618883
- ClinGen CA1194304
- NCI-TCGA Cosmic COSV6340
- cosmic curated COSV63404
- Pathogenic/Likely pathogenic
- ATP1A2-related disorder; Developmental and epileptic encephalopathy 98; Familial
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.76
- CADD 28.30
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (ATP1A2-related disorder; Developmental and epileptic encephalopa)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)