F1262L (p.Phe1262Leu) variant of FANCA (Fanconi anemia group A protein)
F1262L (p.Phe1262Leu) 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.
F1262L (p.Phe1262Leu) variant details
- p.Phe1262Leu
- rs1555534579
- ClinGen CA397485217
- ClinVar RCV000674692
- UniProt VAR 017502
- Pathogenic
- Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- AlphaMissense 0.80
- MetaLR 0.61
- MetaSVM 0.11
- PolyPhen-2 1.00
- SIFT 0.16
- EVE 0.51
- ClinVar: Pathogenic (Fanconi anemia complementation group A)
- EBI: Pathogenic (in FANCA)
- UniProt: Pathogenic (in FANCA)
- Structural context available
- Cited in: High frequency of large intragenic deletions in the Fanconi anemia group A gene. (PMID 10521298)
- Cited in: Fanconi Anemia. (PMID 20301575)