R383C (p.Arg383Cys) variant of ATP1A2 (P50993)
R383C (p.Arg383Cys) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R383C (p.Arg383Cys) variant details
- p.Arg383Cys
- rs2524868247
- ClinGen CA343239556
- ClinVar RCV002785977
- Uncertain significance
- Familial hemiplegic migraine
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.90
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Familial hemiplegic migraine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)