N39D (p.Asn39Asp) variant of FANCD2 (Fanconi anemia group D2 protein)
N39D (p.Asn39Asp) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
N39D (p.Asn39Asp) variant details
- p.Asn39Asp
- gnomAD 3-10032882-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- CADD 2.20
- PolyPhen-2 0.00
- SIFT 0.88
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available