p.Val5 Ala25del variant of TGFBR1 (TGF-beta receptor type-1)
p.Val5 Ala25del 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.
p.Val5 Ala25del variant details
- gnomAD 9-99105210-AGGCGG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.41
- CADD 21.00
- Population evidence available
- Structural context available
- Literature evidence available