A788P (p.Ala788Pro) variant of FANCA (Fanconi anemia group A protein)
A788P (p.Ala788Pro) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A788P (p.Ala788Pro) variant details
- p.Ala788Pro
- rs1036897594
- ClinGen CA397444289
- ClinVar RCV001256271
- Ensembl rs1036897594
- Pathogenic
- Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.63
- CADD 23.50
- PolyPhen-2 0.84
- SIFT 0.01
- ClinVar: Pathogenic (Fanconi anemia complementation group A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)