L407R (p.Leu407Arg) variant of FANCA (Fanconi anemia group A protein)
L407R (p.Leu407Arg) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Fanconi anemia complementation group A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
L407R (p.Leu407Arg) variant details
- p.Leu407Arg
- rs2040089994
- ClinGen CA397465911
- ClinVar RCV001256244
- Ensembl rs2040089994
- Pathogenic
- Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- AlphaMissense 0.70
- MetaLR 0.90
- MetaSVM 0.73
- PolyPhen-2 0.61
- SIFT 0.00
- EVE 0.53
- ClinVar: Pathogenic (Fanconi anemia complementation group A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)