R5E (p.Arg5Glu) variant of FANCD2 (Fanconi anemia group D2 protein)
R5E (p.Arg5Glu) in FANCD2 (Fanconi anemia group D2 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R5E (p.Arg5Glu) variant details
- p.Arg5Glu
- gnomAD 3-10028664-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.47
- CADD 24.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available