K34E (p.Lys34Glu) variant of FANCD2 (Fanconi anemia group D2 protein)
K34E (p.Lys34Glu) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
K34E (p.Lys34Glu) variant details
- p.Lys34Glu
- rs1394658178
- ClinGen CA351718062
- ClinVar RCV001888220
- gnomAD rs1394658178
- Uncertain significance
- Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- CADD 22.70
- PolyPhen-2 0.73
- SIFT 0.06
- ClinVar: Uncertain significance (Fanconi anemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-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)