N58S (p.Asn58Ser) variant of FANCC (Fanconi anemia group C protein)
N58S (p.Asn58Ser) in FANCC (Fanconi anemia group C protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fanconi anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes published literature and structural context.
N58S (p.Asn58Ser) variant details
- p.Asn58Ser
- rs1831061339
- ClinGen CA374340154
- ClinVar RCV001212713
- Ensembl rs1831061339
- Uncertain significance
- Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- AlphaMissense 0.07
- MetaLR 0.05
- MetaSVM -0.99
- PolyPhen-2 0.01
- SIFT 0.86
- EVE 0.18
- ClinVar: Uncertain significance (Fanconi anemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)