E24K (p.Glu24Lys) variant of FANCA (Fanconi anemia group A protein)
E24K (p.Glu24Lys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
E24K (p.Glu24Lys) variant details
- p.Glu24Lys
- cosmic curated COSV66884
- TOPMed rs1311396994
- gnomAD rs1311396994
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.19
- CADD 24.40
- PolyPhen-2 0.67
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available