M1360I (p.Met1360Ile) variant of FANCA (Fanconi anemia group A protein)
M1360I (p.Met1360Ile) 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 0.79 / 1. The record also includes published literature and structural context.
M1360I (p.Met1360Ile) variant details
- p.Met1360Ile
- rs1555533300
- ClinGen CA397484490
- ClinVar RCV001256309
- Ensembl rs1555533300
- Pathogenic
- Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- AlphaMissense 0.75
- MetaLR 0.73
- MetaSVM 0.55
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.82
- 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)