K43N (p.Lys43Asn) variant of ATP1A2 (P50993)
K43N (p.Lys43Asn) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
K43N (p.Lys43Asn) variant details
- p.Lys43Asn
- rs61734527
- ClinGen CA343228460
- ClinVar RCV002005663
- 1000Genomes rs61734527
- Uncertain significance
- Familial hemiplegic migraine
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- AlphaMissense 0.86
- MetaLR 0.47
- MetaSVM -0.05
- PolyPhen-2 0.99
- SIFT 0.03
- EVE 0.43
- ClinVar: Uncertain significance (Familial hemiplegic migraine)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)