L21L (p.Leu21Leu) variant of PURA (Q00577)
L21L (p.Leu21Leu) in PURA (Q00577) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
L21L (p.Leu21Leu) variant details
- p.Leu21Leu
- rs1437420883
- gnomAD 5-140114242-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.454
- CADD 14.30
- Most common in the Non-Finnish European population (allele frequency 1e-05)
- Structural context available
- Literature evidence available