p.Leu17 Ala18insSerAla variant of TGFBR1 (TGF-beta receptor type-1)
p.Leu17 Ala18insSerAla in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu17 Ala18insSerAla variant details
- gnomAD 9-99105255-T-TGTC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.536
- CADD 19.60
- Population evidence available
- Structural context available
- Literature evidence available