K33E (p.Lys33Glu) variant of FANCD2 (Fanconi anemia group D2 protein)
K33E (p.Lys33Glu) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
K33E (p.Lys33Glu) variant details
- p.Lys33Glu
- gnomAD rs2086636777
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- CADD 19.70
- PolyPhen-2 0.15
- SIFT 0.06
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available