E43Q (p.Glu43Gln) variant of FANCD2 (Fanconi anemia group D2 protein)
E43Q (p.Glu43Gln) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
E43Q (p.Glu43Gln) variant details
- p.Glu43Gln
- gnomAD rs1283142313
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- CADD 24.90
- PolyPhen-2 0.74
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available