K44R (p.Lys44Arg) variant of FANCA (Fanconi anemia group A protein)
K44R (p.Lys44Arg) in FANCA (Fanconi anemia group A protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
K44R (p.Lys44Arg) variant details
- p.Lys44Arg
- TOPMed rs912608081
- gnomAD rs912608081
- Missense
- Variant Prioritization Score for Impact Estimate 0.0786
- REVEL 0.04
- CADD 8.88
- PolyPhen-2 0.00
- SIFT 0.50
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available