Y5* (p.Tyr5Ter) variant of TMEM43 (Transmembrane protein 43)
Y5* (p.Tyr5Ter) in TMEM43 (Transmembrane protein 43) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
Y5* (p.Tyr5Ter) variant details
- p.Tyr5Ter
- gnomAD rs1186672026
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.693
- CADD 36.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available