R32T (p.Arg32Thr) variant of FANCA (Fanconi anemia group A protein)
R32T (p.Arg32Thr) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R32T (p.Arg32Thr) variant details
- p.Arg32Thr
- rs770984577
- ClinGen CA8253176
- ClinVar RCV000534176
- ClinVar RCV005338225
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.14
- CADD 20.00
- PolyPhen-2 0.52
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)