D3A (p.Asp3Ala) variant of FANCA (Fanconi anemia group A protein)
D3A (p.Asp3Ala) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Fanconi anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
D3A (p.Asp3Ala) variant details
- p.Asp3Ala
- rs1183087111
- ClinGen CA397484649
- ClinVar RCV001945719
- ClinVar RCV002558465
- Uncertain significance
- Inborn genetic diseases; Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.0914
- REVEL 0.10
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Fanconi anemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)