E40E (p.Glu40Glu) variant of FANCD2 (Fanconi anemia group D2 protein)
E40E (p.Glu40Glu) in FANCD2 (Fanconi anemia group D2 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
E40E (p.Glu40Glu) variant details
- p.Glu40Glu
- gnomAD 3-10032887-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.239
- CADD 8.33
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available