L358R (p.Leu358Arg) variant of FANCA (Fanconi anemia group A protein)
L358R (p.Leu358Arg) 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 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
L358R (p.Leu358Arg) variant details
- p.Leu358Arg
- rs1045404649
- ClinGen CA286594069
- ClinVar RCV001256569
- TOPMed rs1045404649
- Pathogenic
- Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.81
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Fanconi anemia complementation group A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)