L26L (p.Leu26Leu) variant of TMEM43 (Transmembrane protein 43)
L26L (p.Leu26Leu) in TMEM43 (Transmembrane protein 43) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L26L (p.Leu26Leu) variant details
- p.Leu26Leu
- rs752727608
- gnomAD 3-14129475-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.306
- CADD 9.36
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available