I37S (p.Ile37Ser) variant of TGFBR2 (TGF-beta receptor type-2)

Name: TGFBR2 I37S (p.Ile37Ser) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-18
License: https://catvariant.com/terms-of-use

I37S (p.Ile37Ser) in TGFBR2 (TGF-beta receptor type-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.

I37S (p.Ile37Ser) variant details

p.Ile37Ser
gnomAD 3-30623225-GA-G
Frameshift
Variant Prioritization Score for Impact Estimate 0.372
CADD 22.70
Most common in the Non-Finnish European population (allele frequency 9.1e-07)
Structural context available
Literature evidence available