K34R (p.Lys34Arg) variant of FANCA (Fanconi anemia group A protein)
K34R (p.Lys34Arg) in FANCA (Fanconi anemia group A protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
K34R (p.Lys34Arg) variant details
- p.Lys34Arg
- ExAC rs769578985
- TOPMed rs769578985
- gnomAD rs769578985
- Missense
- Variant Prioritization Score for Impact Estimate 0.0733
- REVEL 0.02
- CADD 9.23
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available