N39S (p.Asn39Ser) variant of FANCD2 (Fanconi anemia group D2 protein)
N39S (p.Asn39Ser) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
N39S (p.Asn39Ser) variant details
- p.Asn39Ser
- Ensembl rs1559369611
- Missense
- Variant Prioritization Score for Impact Estimate 0.0674
- CADD 0.70
- PolyPhen-2 0.01
- SIFT 0.47
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available