V44V (p.Val44Val) variant of HNRNPA1 (P09651)
V44V (p.Val44Val) in HNRNPA1 (P09651) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
V44V (p.Val44Val) variant details
- p.Val44Val
- gnomAD 12-54281502-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.749
- CADD 24.80
- Population evidence available
- Structural context available
- Literature evidence available