R1117T (p.Arg1117Thr) variant of FANCA (Fanconi anemia group A protein)
R1117T (p.Arg1117Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
R1117T (p.Arg1117Thr) variant details
- p.Arg1117Thr
- rs2038409656
- ClinGen CA397486164
- ClinVar RCV001256619
- ClinVar RCV005432634
- Pathogenic
- Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- AlphaMissense 0.64
- MetaLR 0.70
- MetaSVM 0.41
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.83
- ClinVar: Pathogenic (Fanconi anemia)
- EBI: Pathogenic (in FANCA)
- UniProt: Pathogenic (in FANCA)
- 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)