L45R (p.Leu45Arg) variant of FANCC (Fanconi anemia group C protein)
L45R (p.Leu45Arg) in FANCC (Fanconi anemia group C protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fanconi anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
L45R (p.Leu45Arg) variant details
- p.Leu45Arg
- rs2136100589
- ClinGen CA374340257
- ClinVar RCV001970758
- Ensembl rs2136100589
- Uncertain significance
- Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- AlphaMissense 0.67
- MetaLR 0.41
- MetaSVM -0.15
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Uncertain significance (Fanconi anemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)