P72del (p.Pro72del) variant of KMT2E (Histone reader KMT2E)

Name: KMT2E P72del (p.Pro72del) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-20
License: https://catvariant.com/terms-of-use

P72del (p.Pro72del) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.

P72del (p.Pro72del) variant details

gnomAD 7-105063370-GTCC-
Inframe Deletion
Variant Prioritization Score for Impact Estimate 0.719
CADD 20.60
Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
Structural context available
Literature evidence available