E2Q (p.Glu2Gln) variant of TGFBR1 (TGF-beta receptor type-1)
E2Q (p.Glu2Gln) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
E2Q (p.Glu2Gln) variant details
- p.Glu2Gln
- gnomAD 9-99105209-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.22
- CADD 22.90
- PolyPhen-2 0.02
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available