S38del (p.Ser38del) variant of FANCD2 (Fanconi anemia group D2 protein)
S38del (p.Ser38del) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S38del (p.Ser38del) variant details
- rs1559369309
- gnomAD 3-10032344-TATC-T
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.231
- CADD 0.76
- Population evidence available
- Structural context available
- Literature evidence available