I58del (p.Ile58del) variant of FANCD2 (Fanconi anemia group D2 protein)
I58del (p.Ile58del) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
I58del (p.Ile58del) variant details
- rs2086639251
- gnomAD 3-10032935-AATT-A
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.328
- CADD 16.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available