E80del (p.Glu80del) variant of TGFB2 (P61812)
E80del (p.Glu80del) in TGFB2 (P61812) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
E80del (p.Glu80del) variant details
- rs1401336138
- gnomAD 1-218346936-CAGG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.578
- CADD 22.60
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available