S46N (p.Ser46Asn) variant of FANCD2 (Fanconi anemia group D2 protein)
S46N (p.Ser46Asn) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
S46N (p.Ser46Asn) variant details
- p.Ser46Asn
- ExAC rs763763504
- TOPMed rs763763504
- gnomAD rs763763504
- Missense
- Variant Prioritization Score for Impact Estimate 0.0616
- CADD 0.15
- PolyPhen-2 0.02
- SIFT 0.42
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available