S126G (p.Ser126Gly) variant of FANCD2 (Fanconi anemia group D2 protein)
S126G (p.Ser126Gly) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Fanconi anemia complementation group D2; Fanconi anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and published literature.
S126G (p.Ser126Gly) variant details
- p.Ser126Gly
- rs764507146
- ClinGen CA2249182
- ClinVar RCV001194901
- ClinVar RCV003635944
- Pathogenic
- Fanconi anemia complementation group D2; Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- CADD 34.00
- PolyPhen-2 0.86
- SIFT 0.03
- ClinVar: Pathogenic (Fanconi anemia complementation group D2; Fanconi anemia)
- EBI: Pathogenic (in FANCD2)
- UniProt: Pathogenic (in FANCD2)
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- 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)