A21E (p.Ala21Glu) variant of TGFBR1 (TGF-beta receptor type-1)
A21E (p.Ala21Glu) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A21E (p.Ala21Glu) variant details
- p.Ala21Glu
- gnomAD 9-99105267-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.42
- CADD 6.74
- PolyPhen-2 0.00
- SIFT 0.73
- Population evidence available
- Structural context available
- Literature evidence available