Y2* (p.Tyr2Ter) variant of TMEM127 (Transmembrane protein 127)
Y2* (p.Tyr2Ter) in TMEM127 (Transmembrane protein 127) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Y2* (p.Tyr2Ter) variant details
- p.Tyr2Ter
- gnomAD 2-96265376-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 35.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-06)
- Structural context available
- Literature evidence available