p.Leu28dup variant of TGFBR1 (TGF-beta receptor type-1)

Name: TGFBR1 p.Leu28dup variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-18
License: https://catvariant.com/terms-of-use

p.Leu28dup in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.

p.Leu28dup variant details

rs1341324939
gnomAD 9-99105282-C-CGCT
Inframe Insertion
Variant Prioritization Score for Impact Estimate 0.355
CADD 15.70
Population evidence available
Structural context available
Literature evidence available