E2G (p.Glu2Gly) variant of TGFBR1 (TGF-beta receptor type-1)
E2G (p.Glu2Gly) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
E2G (p.Glu2Gly) variant details
- p.Glu2Gly
- gnomAD rs1341843102
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.22
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the East Asian population (allele frequency 7.9e-05)
- Structural context available