E42K (p.Glu42Lys) variant of FANCD2 (Fanconi anemia group D2 protein)
E42K (p.Glu42Lys) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
E42K (p.Glu42Lys) variant details
- p.Glu42Lys
- gnomAD rs2086637619
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- CADD 23.00
- PolyPhen-2 0.47
- SIFT 0.46
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available