P7Q (p.Pro7Gln) variant of FANCA (Fanconi anemia group A protein)
P7Q (p.Pro7Gln) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Fanconi anemia; Fanconi anemia complementation group A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
P7Q (p.Pro7Gln) variant details
- p.Pro7Gln
- rs772712346
- ClinGen CA8253277
- ClinVar RCV001354987
- ClinVar RCV002493817
- Uncertain significance
- Inborn genetic diseases; Fanconi anemia; Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0925
- REVEL 0.09
- CADD 4.08
- PolyPhen-2 0.01
- SIFT 0.37
- ClinVar: Uncertain significance (Inborn genetic diseases; Fanconi anemia; Fanconi anemia compleme)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- 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)