Q13H (p.Gln13His) variant of FANCA (Fanconi anemia group A protein)
Q13H (p.Gln13His) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
Q13H (p.Gln13His) variant details
- p.Gln13His
- rs1486155993
- ClinGen CA397484523
- ClinVar RCV001246397
- ClinVar RCV004978207
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0959
- REVEL 0.11
- CADD 3.14
- PolyPhen-2 0.09
- SIFT 0.14
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- 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)