R56* (p.Arg56Ter) variant of NOTCH1 (P46531)
R56* (p.Arg56Ter) in NOTCH1 (P46531) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R56* (p.Arg56Ter) variant details
- p.Arg56Ter
- rs1348892740
- ClinGen CA375573182
- ClinVar RCV000624179
- ClinVar RCV003228963
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.465
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.7e-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)