A27G (p.Ala27Gly) variant of FANCA (Fanconi anemia group A protein)
A27G (p.Ala27Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A27G (p.Ala27Gly) variant details
- p.Ala27Gly
- ExAC rs765679791
- TOPMed rs765679791
- gnomAD rs765679791
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.19
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00017)
- Structural context available