A228G (p.Ala228Gly) variant of FANCA (Fanconi anemia group A protein)
A228G (p.Ala228Gly) 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 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
A228G (p.Ala228Gly) variant details
- p.Ala228Gly
- rs1354884515
- ClinGen CA397477803
- ClinVar RCV001256555
- TOPMed rs1354884515
- Pathogenic
- Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0415
- REVEL 0.01
- CADD 0.18
- ClinVar: Pathogenic (Fanconi anemia complementation group A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)