R39K (p.Arg39Lys) variant of FANCA (Fanconi anemia group A protein)
R39K (p.Arg39Lys) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
R39K (p.Arg39Lys) variant details
- p.Arg39Lys
- rs151089298
- ClinGen CA8253167
- ClinVar RCV000803891
- ClinVar RCV001276569
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.05
- CADD 6.21
- PolyPhen-2 0.01
- SIFT 0.21
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)