E38* (p.Glu38Ter) variant of TGFB2 (P61812)
E38* (p.Glu38Ter) in TGFB2 (P61812) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
E38* (p.Glu38Ter) variant details
- p.Glu38Ter
- gnomAD 1-218346813-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.75
- CADD 37.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available