R24S (p.Arg24Ser) variant of FANCD2 (Fanconi anemia group D2 protein)
R24S (p.Arg24Ser) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R24S (p.Arg24Ser) variant details
- p.Arg24Ser
- TOPMed rs1182307046
- gnomAD rs1182307046
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- CADD 8.90
- PolyPhen-2 0.05
- SIFT 0.10
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available