E80G (p.Glu80Gly) variant of TGFB2 (P61812)
E80G (p.Glu80Gly) in TGFB2 (P61812) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
E80G (p.Glu80Gly) variant details
- p.Glu80Gly
- gnomAD 1-218346940-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.44
- CADD 32.00
- PolyPhen-2 0.28
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available