E16del (p.Glu16del) variant of SMN1 (Survival motor neuron protein)

Name: SMN1 E16del (p.Glu16del) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-22
License: https://catvariant.com/terms-of-use

E16del (p.Glu16del) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and published literature.

E16del (p.Glu16del) variant details

gnomAD 5-70049728-CAGG-C
Inframe Deletion
Variant Prioritization Score for Impact Estimate 0.396
CADD 18.90
Most common in the African/African-American population (allele frequency 0.00031)
Literature evidence available