R53H (p.Arg53His) variant of ATP1A1 (P05023)
R53H (p.Arg53His) in ATP1A1 (P05023) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypomagnesemia, seizures, and intellectual disability 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
R53H (p.Arg53His) variant details
- p.Arg53His
- rs369738549
- ClinGen CA341840513
- ClinVar RCV001815678
- ClinVar RCV004785324
- Uncertain significance
- Hypomagnesemia, seizures, and intellectual disability 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.37
- MetaLR 0.29
- MetaSVM -0.50
- CADD 23.80
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Uncertain significance (Hypomagnesemia, seizures, and intellectual disability 2; not pro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:COLOMBIAN population (allele frequency 0.5)
- Structural context available