L45L (p.Leu45Leu) variant of TMEM43 (Transmembrane protein 43)
L45L (p.Leu45Leu) in TMEM43 (Transmembrane protein 43) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
L45L (p.Leu45Leu) variant details
- p.Leu45Leu
- rs1205453844
- gnomAD 3-14129534-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.14
- CADD 8.41
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available
- Literature evidence available