S46I (p.Ser46Ile) variant of FANCD2 (Fanconi anemia group D2 protein)
S46I (p.Ser46Ile) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
S46I (p.Ser46Ile) variant details
- p.Ser46Ile
- ExAC rs763763504
- TOPMed rs763763504
- gnomAD rs763763504
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- CADD 13.40
- PolyPhen-2 0.86
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available