E43K (p.Glu43Lys) variant of FANCD2 (Fanconi anemia group D2 protein)
E43K (p.Glu43Lys) in FANCD2 (Fanconi anemia group D2 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
E43K (p.Glu43Lys) variant details
- p.Glu43Lys
- rs1222226960
- gnomAD 3-10032891-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.549
- CADD 25.40
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available