R18* (p.Arg18Ter) variant of ETFA (P13804)
R18* (p.Arg18Ter) in ETFA (P13804) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R18* (p.Arg18Ter) variant details
- p.Arg18Ter
- rs754202690
- ClinGen CA7673866
- ClinVar RCV000824641
- ClinVar RCV001564261
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.848
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00021)
- 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)