G28E (p.Gly28Glu) variant of FANCA (Fanconi anemia group A protein)
G28E (p.Gly28Glu) in FANCA (Fanconi anemia group A protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
G28E (p.Gly28Glu) variant details
- p.Gly28Glu
- gnomAD rs1336535353
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.40
- CADD 24.30
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available