S46P (p.Ser46Pro) variant of FANCA (Fanconi anemia group A protein)
S46P (p.Ser46Pro) 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 Inborn genetic diseases; Fanconi anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S46P (p.Ser46Pro) variant details
- p.Ser46Pro
- rs2041098152
- ClinGen CA397483414
- ClinVar RCV001914479
- NCI-TCGA TCGA novel
- Uncertain significance
- Inborn genetic diseases; Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.16
- CADD 21.40
- ClinVar: Uncertain significance (Inborn genetic diseases; Fanconi anemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)