p.Glu36 Leu39del variant of ESR1 (Estrogen receptor)

Name: ESR1 p.Glu36 Leu39del variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-10
License: https://catvariant.com/terms-of-use

p.Glu36 Leu39del in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.

p.Glu36 Leu39del variant details

gnomAD 6-151808011-CCCCC
Inframe Deletion
Variant Prioritization Score for Impact Estimate 0.323
CADD 22.40
Most common in the Non-Finnish European population (allele frequency 9.9e-07)
Structural context available
Literature evidence available