L13T (p.Leu13Thr) variant of HNRNPA1 (P09651)
L13T (p.Leu13Thr) in HNRNPA1 (P09651) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
L13T (p.Leu13Thr) variant details
- p.Leu13Thr
- rs1295308839
- gnomAD 12-54281036-T-TA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.088
- CADD 1.04
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available
- Literature evidence available