E14K (p.Glu14Lys) variant of FANCD2 (Fanconi anemia group D2 protein)
E14K (p.Glu14Lys) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
E14K (p.Glu14Lys) variant details
- p.Glu14Lys
- Ensembl rs2086517587
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- CADD 17.70
- PolyPhen-2 0.01
- SIFT 0.12
- Population evidence available
- Structural context available