R6R (p.Arg6Arg) variant of FANCD2 (Fanconi anemia group D2 protein)
R6R (p.Arg6Arg) in FANCD2 (Fanconi anemia group D2 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R6R (p.Arg6Arg) variant details
- p.Arg6Arg
- rs2086516559
- gnomAD 3-10028673-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.431
- CADD 9.36
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available