p.Leu17 Ala21delinsPro variant of TGFBR1 (TGF-beta receptor type-1)
p.Leu17 Ala21delinsPro in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu17 Ala21delinsPro variant details
- gnomAD 9-99105254-CTGGCG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.673
- CADD 20.10
- Population evidence available
- Structural context available
- Literature evidence available