I58S (p.Ile58Ser) variant of FANCD2 (Fanconi anemia group D2 protein)
I58S (p.Ile58Ser) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
I58S (p.Ile58Ser) variant details
- p.Ile58Ser
- TOPMed rs1302919588
- gnomAD rs1302919588
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- CADD 16.30
- PolyPhen-2 0.17
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available