L52F (p.Leu52Phe) variant of FANCD2 (Fanconi anemia group D2 protein)
L52F (p.Leu52Phe) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
L52F (p.Leu52Phe) variant details
- p.Leu52Phe
- gnomAD 3-10032921-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- CADD 23.30
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available