S21S (p.Ser21Ser) variant of FANCD2 (Fanconi anemia group D2 protein)
S21S (p.Ser21Ser) in FANCD2 (Fanconi anemia group D2 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
S21S (p.Ser21Ser) variant details
- p.Ser21Ser
- gnomAD 3-10028720-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.127
- CADD 6.56
- Population evidence available
- Structural context available
- Literature evidence available