E45G (p.Glu45Gly) variant of FANCA (Fanconi anemia group A protein)
E45G (p.Glu45Gly) in FANCA (Fanconi anemia group A protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
E45G (p.Glu45Gly) variant details
- p.Glu45Gly
- gnomAD rs1443801693
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.08
- CADD 17.00
- PolyPhen-2 0.16
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available