L16M (p.Leu16Met) variant of FANCD2 (Fanconi anemia group D2 protein)
L16M (p.Leu16Met) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
L16M (p.Leu16Met) variant details
- p.Leu16Met
- gnomAD 3-10028703-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- CADD 12.40
- PolyPhen-2 0.65
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available