R1236H (p.Arg1236His) variant of FANCD2 (Fanconi anemia group D2 protein)
R1236H (p.Arg1236His) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Fanconi anemia; Fanconi anemia complementation group D2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and published literature.
R1236H (p.Arg1236His) variant details
- p.Arg1236His
- rs121917786
- ClinGen CA256193
- ClinVar RCV000012818
- ClinVar RCV001265744
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Fanconi anemia; Fanconi anemia complementation group D2
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- CADD 27.30
- PolyPhen-2 0.82
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Fanconi anemia; Fanconi anemia compleme)
- EBI: Pathogenic (in FANCD2)
- UniProt: Pathogenic (in FANCD2)
- Most common in the South Asian population (allele frequency 0.00021)
- Cited in: Positional cloning of a novel Fanconi anemia gene, FANCD2. (PMID 11239453)
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)