S55S (p.Ser55Ser) variant of FANCD2 (Fanconi anemia group D2 protein)
S55S (p.Ser55Ser) in FANCD2 (Fanconi anemia group D2 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
S55S (p.Ser55Ser) variant details
- p.Ser55Ser
- gnomAD 3-10032932-A-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.2
- CADD 7.86
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available