N58I (p.Asn58Ile) variant of FANCA (Fanconi anemia group A protein)
N58I (p.Asn58Ile) in FANCA (Fanconi anemia group A 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 A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
N58I (p.Asn58Ile) variant details
- p.Asn58Ile
- ExAC rs746705026
- gnomAD rs746705026
- Uncertain significance
- Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0866
- REVEL 0.08
- CADD 6.24
- PolyPhen-2 0.15
- SIFT 0.03
- ClinVar: Uncertain significance (Fanconi anemia complementation group A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.7e-05)
- Structural context available