L29L (p.Leu29Leu) variant of TMEM43 (Transmembrane protein 43)
L29L (p.Leu29Leu) in TMEM43 (Transmembrane protein 43) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
L29L (p.Leu29Leu) variant details
- p.Leu29Leu
- rs1458468961
- gnomAD 3-14129486-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.626
- CADD 9.39
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available