K9E (p.Lys9Glu) variant of FANCD2 (Fanconi anemia group D2 protein)
K9E (p.Lys9Glu) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
K9E (p.Lys9Glu) variant details
- p.Lys9Glu
- gnomAD 3-10028682-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- CADD 18.40
- PolyPhen-2 0.17
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available