Q26H (p.Gln26His) variant of FANCD2 (Fanconi anemia group D2 protein)
Q26H (p.Gln26His) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Fanconi anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
Q26H (p.Gln26His) variant details
- p.Gln26His
- rs45510294
- ClinGen CA2249106
- cosmic curated COSV55036
- ClinVar RCV000538452
- Conflicting interpretations
- not specified; not provided; Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- CADD 10.90
- PolyPhen-2 0.37
- SIFT 0.11
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Fanconi anemia)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- 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)