L40L (p.Leu40Leu) variant of TMEM43 (Transmembrane protein 43)
L40L (p.Leu40Leu) in TMEM43 (Transmembrane protein 43) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
L40L (p.Leu40Leu) variant details
- p.Leu40Leu
- rs777915392
- gnomAD 3-14129519-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.555
- CADD 9.21
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available