R6S (p.Arg6Ser) variant of FANCD2 (Fanconi anemia group D2 protein)
R6S (p.Arg6Ser) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fanconi anemia complementation group D2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
R6S (p.Arg6Ser) variant details
- p.Arg6Ser
- TOPMed rs1478137051
- gnomAD rs1478137051
- Uncertain significance
- Fanconi anemia complementation group D2
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- CADD 13.70
- PolyPhen-2 0.04
- SIFT 0.04
- ClinVar: Uncertain significance (Fanconi anemia complementation group D2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available