D45G (p.Asp45Gly) variant of FANCD2 (Fanconi anemia group D2 protein)
D45G (p.Asp45Gly) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
D45G (p.Asp45Gly) variant details
- p.Asp45Gly
- ExAC rs760551996
- gnomAD rs760551996
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available