S46S (p.Ser46Ser) variant of FANCD2 (Fanconi anemia group D2 protein)
S46S (p.Ser46Ser) in FANCD2 (Fanconi anemia group D2 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
S46S (p.Ser46Ser) variant details
- p.Ser46Ser
- rs753860269
- gnomAD 3-10032905-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.479
- CADD 1.34
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available