E5E (p.Glu5Glu) variant of HNRNPA1 (P09651)
E5E (p.Glu5Glu) in HNRNPA1 (P09651) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
E5E (p.Glu5Glu) variant details
- p.Glu5Glu
- rs1311990822
- gnomAD 12-54280822-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.743
- CADD 23.50
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available