p.Ala18 Leu28delinsVal variant of TGFBR1 (TGF-beta receptor type-1)

Name: TGFBR1 p.Ala18 Leu28delinsVal variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-18
License: https://catvariant.com/terms-of-use

p.Ala18 Leu28delinsVal in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.

p.Ala18 Leu28delinsVal variant details

gnomAD 9-99105257-GCGGCG
Inframe Deletion
Variant Prioritization Score for Impact Estimate 0.45
CADD 19.90
Most common in the Non-Finnish European population (allele frequency 1.6e-06)
Structural context available
Literature evidence available