R1055G (p.Arg1055Gly) variant of FANCA (Fanconi anemia group A protein)
R1055G (p.Arg1055Gly) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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.
R1055G (p.Arg1055Gly) variant details
- p.Arg1055Gly
- rs753063086
- ClinGen CA397486567
- NCI-TCGA Cosmic COSV5979
- cosmic curated COSV59799
- Likely pathogenic
- Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- AlphaMissense 0.71
- MetaLR 0.76
- MetaSVM 0.21
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Likely 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)