R61Q (p.Arg61Gln) variant of ATP1A1 (P05023)
R61Q (p.Arg61Gln) in ATP1A1 (P05023) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R61Q (p.Arg61Gln) variant details
- p.Arg61Gln
- rs755576753
- ClinGen CA1025034
- ClinVar RCV002006245
- ClinVar RCV003289352
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.23
- MetaLR 0.14
- MetaSVM -0.95
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.68
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)