S46R (p.Ser46Arg) variant of FANCD2 (Fanconi anemia group D2 protein)
S46R (p.Ser46Arg) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
S46R (p.Ser46Arg) variant details
- p.Ser46Arg
- ExAC rs753860269
- gnomAD rs753860269
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- CADD 10.20
- PolyPhen-2 0.68
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available