K59T (p.Lys59Thr) variant of ATP1A2 (P50993)
K59T (p.Lys59Thr) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
K59T (p.Lys59Thr) variant details
- p.Lys59Thr
- rs1367410532
- ClinGen CA343228956
- ClinVar RCV001049645
- TOPMed rs1367410532
- Uncertain significance
- Familial hemiplegic migraine
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.19
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.58
- ClinVar: Uncertain significance (Familial hemiplegic migraine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)