E38Q (p.Glu38Gln) variant of FANCA (Fanconi anemia group A protein)
E38Q (p.Glu38Gln) in FANCA (Fanconi anemia group A protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
E38Q (p.Glu38Gln) variant details
- p.Glu38Gln
- gnomAD rs2041099874
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.09
- CADD 18.60
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available