L35C (p.Leu35Cys) variant of TMEM127 (Transmembrane protein 127)
L35C (p.Leu35Cys) in TMEM127 (Transmembrane protein 127) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
L35C (p.Leu35Cys) variant details
- p.Leu35Cys
- gnomAD 2-96265278-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.615
- CADD 24.30
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available