D45N (p.Asp45Asn) variant of FANCD2 (Fanconi anemia group D2 protein)
D45N (p.Asp45Asn) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
D45N (p.Asp45Asn) variant details
- p.Asp45Asn
- gnomAD rs1212641809
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- CADD 22.70
- PolyPhen-2 0.47
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available