A4E (p.Ala4Glu) variant of TGFBR1 (TGF-beta receptor type-1)
A4E (p.Ala4Glu) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A4E (p.Ala4Glu) variant details
- p.Ala4Glu
- gnomAD 9-99105216-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.29
- CADD 22.20
- PolyPhen-2 0.63
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available