D3H (p.Asp3His) variant of FANCA (Fanconi anemia group A protein)
D3H (p.Asp3His) 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 Fanconi anemia. 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.
D3H (p.Asp3His) variant details
- p.Asp3His
- rs1246636933
- ClinGen CA397484652
- ClinVar RCV001349027
- TOPMed rs1246636933
- Uncertain significance
- Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.19
- CADD 16.90
- PolyPhen-2 0.26
- SIFT 0.08
- ClinVar: Uncertain significance (Fanconi anemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.4e-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)