Q26E (p.Gln26Glu) variant of FANCD2 (Fanconi anemia group D2 protein)
Q26E (p.Gln26Glu) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
Q26E (p.Gln26Glu) variant details
- p.Gln26Glu
- gnomAD 3-10032843-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- CADD 2.29
- PolyPhen-2 0.03
- SIFT 0.50
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available