R1080L (p.Arg1080Leu) variant of FANCA (Fanconi anemia group A protein)
R1080L (p.Arg1080Leu) 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 0.66 / 1. The record also includes published literature and structural context.
R1080L (p.Arg1080Leu) variant details
- p.Arg1080Leu
- rs1555538571
- ClinGen CA397486417
- NCI-TCGA Cosmic COSV5979
- cosmic curated COSV59796
- Pathogenic
- Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- AlphaMissense 0.33
- MetaLR 0.72
- MetaSVM 0.47
- PolyPhen-2 0.98
- SIFT 0.01
- MutPred 0.61
- ClinVar: Pathogenic (Fanconi anemia complementation group A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)