L43* (p.Leu43Ter) variant of FANCA (Fanconi anemia group A protein)
L43* (p.Leu43Ter) in FANCA (Fanconi anemia group A protein) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
L43* (p.Leu43Ter) variant details
- p.Leu43Ter
- rs1158456786
- ClinGen CA397483468
- ClinVar RCV001256539
- ClinVar RCV003523089
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.605
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)