T838R (p.Thr838Arg) variant of FANCA (Fanconi anemia group A protein)
T838R (p.Thr838Arg) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Fanconi anemia complementation group A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
T838R (p.Thr838Arg) variant details
- p.Thr838Arg
- rs1216922486
- ClinGen CA397440895
- ClinVar RCV001256386
- TOPMed rs1216922486
- Pathogenic
- Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.50
- CADD 23.00
- PolyPhen-2 0.54
- SIFT 0.00
- ClinVar: Pathogenic (Fanconi anemia complementation group A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)