A1399P (p.Ala1399Pro) variant of FANCA (Fanconi anemia group A protein)
A1399P (p.Ala1399Pro) 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 0.81 / 1. The record also includes published literature and structural context.
A1399P (p.Ala1399Pro) variant details
- p.Ala1399Pro
- rs749574677
- ClinGen CA286614345
- ClinVar RCV001256420
- Ensembl rs749574677
- Pathogenic
- Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- AlphaMissense 0.85
- MetaLR 0.76
- MetaSVM 0.63
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.81
- ClinVar: Pathogenic (Fanconi anemia complementation group A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)