R51C (p.Arg51Cys) variant of ATP1A2 (P50993)
R51C (p.Arg51Cys) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial hemiplegic migraine; not provided; Migraine, familial hemiplegic, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
R51C (p.Arg51Cys) variant details
- p.Arg51Cys
- rs747283283
- ClinGen CA1194101
- NCI-TCGA Cosmic COSV6340
- cosmic curated COSV63403
- Conflicting interpretations
- Familial hemiplegic migraine; not provided; Migraine, familial hemiplegic, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.53
- CADD 23.10
- PolyPhen-2 0.09
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Familial hemiplegic migraine; not provided; Migraine, familial h)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:HAN population (allele frequency 0.015)
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)