Y843D (p.Tyr843Asp) variant of FANCA (Fanconi anemia group A protein)
Y843D (p.Tyr843Asp) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of FANCA-related disorder; Fanconi anemia complementation group A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
Y843D (p.Tyr843Asp) variant details
- p.Tyr843Asp
- rs374030577
- ClinGen CA8251683
- ClinVar RCV001256387
- ClinVar RCV004727049
- Pathogenic/Likely pathogenic
- FANCA-related disorder; Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.83
- CADD 24.20
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (FANCA-related disorder; Fanconi anemia complementation group A)
- EBI: Pathogenic (in FANCA)
- UniProt: Pathogenic (in FANCA)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Genetic subtyping of Fanconi anemia by comprehensive mutation screening. (PMID 17924555)
- Cited in: Fanconi Anemia. (PMID 20301575)