L28F (p.Leu28Phe) variant of FANCD2 (Fanconi anemia group D2 protein)
L28F (p.Leu28Phe) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and published literature.
L28F (p.Leu28Phe) variant details
- p.Leu28Phe
- gnomAD 3-10032313-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- CADD 1.93
- Population evidence available
- Literature evidence available