D3Y (p.Asp3Tyr) variant of FANCA (Fanconi anemia group A protein)
D3Y (p.Asp3Tyr) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
D3Y (p.Asp3Tyr) variant details
- p.Asp3Tyr
- rs1246636933
- ClinGen CA397484654
- ClinVar RCV000693528
- TOPMed rs1246636933
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.21
- CADD 16.80
- PolyPhen-2 0.20
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.8e-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)