L210R (p.Leu210Arg) variant of FANCA (Fanconi anemia group A protein)
L210R (p.Leu210Arg) 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 0.51 / 1. The record also includes published literature and structural context.
L210R (p.Leu210Arg) variant details
- p.Leu210Arg
- rs2040601073
- ClinGen CA397478113
- ClinVar RCV001256554
- UniProt VAR 038012
- Pathogenic
- Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- AlphaMissense 0.81
- MetaLR 0.24
- MetaSVM -0.59
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Pathogenic (Fanconi anemia complementation group A)
- EBI: Pathogenic (in FANCA)
- UniProt: Pathogenic (in FANCA)
- Structural context available
- Cited in: Genetic subtyping of Fanconi anemia by comprehensive mutation screening. (PMID 17924555)
- Cited in: Fanconi Anemia. (PMID 20301575)