E47del (p.Glu47del) variant of TPM1 (Tropomyosin alpha-1 chain)

Name: TPM1 E47del (p.Glu47del) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-21
License: https://catvariant.com/terms-of-use

E47del (p.Glu47del) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.

E47del (p.Glu47del) variant details

gnomAD 15-63043727-AAGG-
Inframe Deletion
Variant Prioritization Score for Impact Estimate 0.595
CADD 21.70
Most common in the Finnish in Finland (FIN) population (allele frequency 2.1e-05)
Structural context available
Literature evidence available