L28I (p.Leu28Ile) variant of FANCD2 (Fanconi anemia group D2 protein)
L28I (p.Leu28Ile) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and published literature.
L28I (p.Leu28Ile) variant details
- p.Leu28Ile
- gnomAD 3-10032313-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- CADD 1.27
- Population evidence available
- Literature evidence available