L40S (p.Leu40Ser) variant of TMEM43 (Transmembrane protein 43)
L40S (p.Leu40Ser) in TMEM43 (Transmembrane protein 43) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
L40S (p.Leu40Ser) variant details
- p.Leu40Ser
- gnomAD 3-14129516-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.262
- CADD 25.60
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available