K53Q (p.Lys53Gln) variant of FANCD2 (Fanconi anemia group D2 protein)
K53Q (p.Lys53Gln) 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 complementation group D2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
K53Q (p.Lys53Gln) variant details
- p.Lys53Gln
- cosmic curated COSV55047
- gnomAD rs1024178739
- Uncertain significance
- Fanconi anemia complementation group D2
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- CADD 23.90
- PolyPhen-2 0.98
- SIFT 0.03
- ClinVar: Uncertain significance (Fanconi anemia complementation group D2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available