C43S (p.Cys43Ser) variant of HNRNPA1 (P09651)
C43S (p.Cys43Ser) in HNRNPA1 (P09651) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
C43S (p.Cys43Ser) variant details
- p.Cys43Ser
- gnomAD 12-54281070-TTG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.113
- CADD 4.54
- Population evidence available
- Structural context available
- Literature evidence available