S33* (p.Ser33Ter) variant of TMEM127 (Transmembrane protein 127)
S33* (p.Ser33Ter) in TMEM127 (Transmembrane protein 127) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
S33* (p.Ser33Ter) variant details
- p.Ser33Ter
- gnomAD 2-96265284-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.846
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available