G17D (p.Gly17Asp) variant of FANCA (Fanconi anemia group A protein)
G17D (p.Gly17Asp) 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; not provided. 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.
G17D (p.Gly17Asp) variant details
- p.Gly17Asp
- rs1326963514
- ClinGen CA397484479
- ClinVar RCV003522587
- ClinVar RCV004585050
- Uncertain significance
- Inborn genetic diseases; Fanconi anemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.23
- AlphaMissense 0.11
- MetaLR 0.22
- MetaSVM -0.72
- CADD 5.55
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; Fanconi anemia; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.9e-05)
- 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)