G17C (p.Gly17Cys) variant of FANCA (Fanconi anemia group A protein)
G17C (p.Gly17Cys) 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 not provided; Fanconi anemia; Fanconi anemia complementation group A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
G17C (p.Gly17Cys) variant details
- p.Gly17Cys
- rs982957228
- ClinGen CA286612747
- ClinVar RCV002592468
- ClinVar RCV004621725
- Uncertain significance
- not provided; Fanconi anemia; Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.21
- CADD 18.20
- PolyPhen-2 0.54
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Fanconi anemia; Fanconi anemia complementation gro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MANDENKA population (allele frequency 0.026)
- 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)