N44S (p.Asn44Ser) variant of FANCD2 (Fanconi anemia group D2 protein)
N44S (p.Asn44Ser) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
N44S (p.Asn44Ser) variant details
- p.Asn44Ser
- ExAC rs752246063
- gnomAD rs752246063
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- CADD 20.70
- PolyPhen-2 0.68
- SIFT 0.16
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00012)
- Structural context available