D3N (p.Asp3Asn) variant of FANCA (Fanconi anemia group A protein)
D3N (p.Asp3Asn) 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 0.34 / 1. The record also includes population frequency data and structural context.
D3N (p.Asp3Asn) variant details
- p.Asp3Asn
- TOPMed rs1246636933
- gnomAD rs1246636933
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.13
- CADD 15.20
- PolyPhen-2 0.01
- SIFT 0.34
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.6e-06)
- Structural context available