R7C (p.Arg7Cys) variant of ATP1A1 (P05023)
R7C (p.Arg7Cys) in ATP1A1 (P05023) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R7C (p.Arg7Cys) variant details
- p.Arg7Cys
- rs1429384765
- ClinGen CA341840172
- NCI-TCGA Cosmic COSV5518
- NCI-TCGA Cosmic COSV5519
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.53
- MetaLR 0.74
- MetaSVM 0.63
- CADD 27.00
- PolyPhen-2 0.37
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 9.9e-05)
- 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)