D1429Y (p.Asp1429Tyr) variant of FANCA (Fanconi anemia group A protein)
D1429Y (p.Asp1429Tyr) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Fanconi anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
D1429Y (p.Asp1429Tyr) variant details
- p.Asp1429Tyr
- rs748856769
- ClinGen CA397483114
- ClinVar RCV002895821
- ExAC rs748856769
- Likely pathogenic
- Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.67
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Fanconi anemia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)