L51F (p.Leu51Phe) variant of FANCD2 (Fanconi anemia group D2 protein)
L51F (p.Leu51Phe) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
L51F (p.Leu51Phe) variant details
- p.Leu51Phe
- ExAC rs769115043
- gnomAD rs769115043
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- CADD 14.10
- PolyPhen-2 0.05
- SIFT 0.21
- Most common in the Latino/Admixed American population (allele frequency 9e-05)
- Structural context available