p.Ala23 Ala26del variant of TGFBR1 (TGF-beta receptor type-1)

Name: TGFBR1 p.Ala23 Ala26del variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-18
License: https://catvariant.com/terms-of-use

p.Ala23 Ala26del in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.

p.Ala23 Ala26del variant details

rs11466445
gnomAD 9-99105255-TGGCGG
Inframe Deletion
Variant Prioritization Score for Impact Estimate 0.539
CADD 19.90
Most common in the 1KG:PEL population (allele frequency 0.0062)
Structural context available
Cited in: Inherited alterations of TGF beta signaling components in Appalachian cervical cancers. (PMID 31435875)
Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)