L362P (p.Leu362Pro) variant of FANCA (Fanconi anemia group A protein)
L362P (p.Leu362Pro) 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 0.60 / 1. The record also includes published literature and structural context.
L362P (p.Leu362Pro) variant details
- p.Leu362Pro
- rs2040094645
- ClinGen CA397466421
- ClinVar RCV001256238
- Ensembl rs2040094645
- Pathogenic
- Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- AlphaMissense 0.79
- MetaLR 0.50
- MetaSVM 0.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Pathogenic (Fanconi anemia complementation group A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)