R3H (p.Arg3His) variant of ATP1A2 (P50993)
R3H (p.Arg3His) 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 specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R3H (p.Arg3His) variant details
- p.Arg3His
- rs781687346
- ClinGen CA313325
- cosmic curated COSV63404
- ClinVar RCV000186804
- Conflicting interpretations
- Familial hemiplegic migraine; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.43
- CADD 22.70
- PolyPhen-2 0.07
- SIFT 0.58
- ClinVar: Conflicting classifications of pathogenicity (Familial hemiplegic migraine; not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.021)
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)