L30L (p.Leu30Leu) variant of HNRNPA1 (P09651)
L30L (p.Leu30Leu) in HNRNPA1 (P09651) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
L30L (p.Leu30Leu) variant details
- p.Leu30Leu
- rs1192540679
- gnomAD 12-54281458-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.464
- CADD 14.10
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available