R39T (p.Arg39Thr) variant of FANCA (Fanconi anemia group A protein)
R39T (p.Arg39Thr) 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; Fanconi anemia; not specified. 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.
R39T (p.Arg39Thr) variant details
- p.Arg39Thr
- rs151089298
- ClinGen CA8253168
- ClinVar RCV001801132
- ClinVar RCV002541345
- Uncertain significance
- Inborn genetic diseases; Fanconi anemia; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.05
- CADD 6.20
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Uncertain significance (Inborn genetic diseases; Fanconi anemia; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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)