K25E (p.Lys25Glu) variant of FANCD2 (Fanconi anemia group D2 protein)
K25E (p.Lys25Glu) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
K25E (p.Lys25Glu) variant details
- p.Lys25Glu
- ExAC rs777237116
- gnomAD rs777237116
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- CADD 19.30
- PolyPhen-2 0.02
- SIFT 0.04
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available