W41* (p.Trp41Ter) variant of ABCA4 (P78363)
W41* (p.Trp41Ter) in ABCA4 (P78363) 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
W41* (p.Trp41Ter) variant details
- p.Trp41Ter
- rs748357067
- ClinGen CA958928
- ClinVar RCV000596465
- ClinVar RCV001000881
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.746
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BALOCHI population (allele frequency 0.022)
- 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)