G17A (p.Gly17Ala) variant of FANCA (Fanconi anemia group A protein)
G17A (p.Gly17Ala) 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 Fanconi anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
G17A (p.Gly17Ala) variant details
- p.Gly17Ala
- rs1326963514
- ClinGen CA397484477
- ClinVar RCV001927092
- gnomAD rs1326963514
- Uncertain significance
- Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- AlphaMissense 0.11
- MetaLR 0.22
- MetaSVM -0.72
- PolyPhen-2 0.01
- SIFT 0.38
- MutPred 0.11
- ClinVar: Uncertain significance (Fanconi anemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)