p.Ala6 Ala26del variant of TGFBR1 (TGF-beta receptor type-1)
p.Ala6 Ala26del in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala6 Ala26del variant details
- gnomAD 9-99105219-TCGCTG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.423
- CADD 20.30
- Population evidence available
- Structural context available
- Literature evidence available