E40K (p.Glu40Lys) variant of FANCD2 (Fanconi anemia group D2 protein)
E40K (p.Glu40Lys) 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 Fanconi anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes published literature and structural context.
E40K (p.Glu40Lys) variant details
- p.Glu40Lys
- rs2086637443
- ClinGen CA351718206
- ClinVar RCV001055948
- Ensembl rs2086637443
- Uncertain significance
- Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- AlphaMissense 0.08
- MetaLR 0.19
- MetaSVM -0.90
- PolyPhen-2 0.96
- SIFT 0.28
- EVE 0.27
- 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)