I285L (p.Ile285Leu) variant of ATP1A3 (P13637)
I285L (p.Ile285Leu) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Paroxysmal central nervous system disorders; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
I285L (p.Ile285Leu) variant details
- p.Ile285Leu
- rs2075273567
- ClinGen CA406052787
- ClinVar RCV004425849
- ClinVar RCV006444298
- Uncertain significance
- Paroxysmal central nervous system disorders; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Paroxysmal central nervous system disorders; Inborn genetic dise)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)