E45K (p.Glu45Lys) variant of FANCA (Fanconi anemia group A protein)
E45K (p.Glu45Lys) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
E45K (p.Glu45Lys) variant details
- p.Glu45Lys
- rs142990858
- ClinGen CA8253162
- ClinVar RCV000457577
- ClinVar RCV005010357
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.05
- CADD 18.00
- PolyPhen-2 0.28
- SIFT 0.06
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-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)