D45E (p.Asp45Glu) variant of FANCD2 (Fanconi anemia group D2 protein)
D45E (p.Asp45Glu) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
D45E (p.Asp45Glu) variant details
- p.Asp45Glu
- gnomAD rs1249079249
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- CADD 11.10
- PolyPhen-2 0.01
- SIFT 0.34
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available