N14K (p.Asn14Lys) variant of ATP1A3 (P13637)
N14K (p.Asn14Lys) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Dystonia 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
N14K (p.Asn14Lys) variant details
- p.Asn14Lys
- rs1247855214
- TOPMed rs1247855214
- gnomAD rs1247855214
- ClinGen CA406057890
- Uncertain significance
- Inborn genetic diseases; Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 9.31
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Dystonia 12)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)