S46* (p.Ser46Ter) variant of FANCA (Fanconi anemia group A protein)
S46* (p.Ser46Ter) 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 0.42 / 1. The record also includes published literature and structural context.
S46* (p.Ser46Ter) variant details
- p.Ser46Ter
- rs2041098068
- ClinGen CA397483405
- ClinVar RCV001939493
- Ensembl rs2041098068
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.421
- AlphaMissense 0.20
- MetaLR 0.18
- MetaSVM -0.86
- PolyPhen-2 0.65
- SIFT 0.01
- EVE 0.75
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)