S35R (p.Ser35Arg) variant of FANCD2 (Fanconi anemia group D2 protein)
S35R (p.Ser35Arg) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S35R (p.Ser35Arg) variant details
- p.Ser35Arg
- rs1294426389
- gnomAD 3-10032333-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- CADD 3.73
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available