Q140L (p.Gln140Leu) variant of ATP1A3 (P13637)
Q140L (p.Gln140Leu) in ATP1A3 (P13637) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in AHC2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
Q140L (p.Gln140Leu) variant details
- p.Gln140Leu
- rs606231427
- UniProt VAR 068937
- Ensembl rs606231427
- Pathogenic
- in AHC2
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- AlphaMissense 0.94
- MetaLR 0.91
- MetaSVM 1.01
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.71
- EBI: Pathogenic (in AHC2)
- UniProt: Pathogenic (in AHC2)
- Structural context available
- Cited in: De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. (PMID 22842232)
- Cited in: Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing… (PMID 22850527)