L44L (p.Leu44Leu) variant of TMEM43 (Transmembrane protein 43)
L44L (p.Leu44Leu) 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.
L44L (p.Leu44Leu) variant details
- p.Leu44Leu
- rs770765460
- gnomAD 3-14129531-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.144
- CADD 8.96
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available