N39K (p.Asn39Lys) variant of FANCD2 (Fanconi anemia group D2 protein)
N39K (p.Asn39Lys) 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, published literature, and structural context.
N39K (p.Asn39Lys) variant details
- p.Asn39Lys
- gnomAD 3-10032884-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- CADD 8.55
- PolyPhen-2 0.06
- SIFT 0.36
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available