K44T (p.Lys44Thr) variant of FANCA (Fanconi anemia group A protein)
K44T (p.Lys44Thr) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes structural context.
K44T (p.Lys44Thr) variant details
- p.Lys44Thr
- TOPMed rs912608081
- gnomAD rs912608081
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available