R1204P (p.Arg1204Pro) variant of FANCA (Fanconi anemia group A protein)
R1204P (p.Arg1204Pro) 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 0.55 / 1. The record also includes published literature and structural context.
R1204P (p.Arg1204Pro) variant details
- p.Arg1204Pro
- rs770622823
- ClinGen CA397485603
- ClinVar RCV001256406
- ExAC rs770622823
- Pathogenic
- Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- AlphaMissense 0.60
- MetaLR 0.52
- MetaSVM -0.19
- PolyPhen-2 0.94
- SIFT 0.02
- EVE 0.65
- ClinVar: Pathogenic (Fanconi anemia complementation group A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)