D31N (p.Asp31Asn) variant of ATP1A2 (P50993)
D31N (p.Asp31Asn) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
D31N (p.Asp31Asn) variant details
- p.Asp31Asn
- rs779868172
- ClinGen CA1194084
- ClinVar RCV003747445
- ExAC rs779868172
- Uncertain significance
- Familial hemiplegic migraine
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.35
- CADD 23.80
- PolyPhen-2 0.13
- SIFT 0.12
- ClinVar: Uncertain significance (Familial hemiplegic migraine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00027)
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)