E33K (p.Glu33Lys) variant of FANCA (Fanconi anemia group A protein)
E33K (p.Glu33Lys) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
E33K (p.Glu33Lys) variant details
- p.Glu33Lys
- rs2041101017
- ClinGen CA397483691
- cosmic curated COSV66883
- ClinVar RCV001948296
- Uncertain significance
- Inborn genetic diseases; Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.03
- CADD 13.60
- PolyPhen-2 0.01
- SIFT 0.19
- 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 9e-07)
- 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)