K38del (p.Lys38del) variant of MFN2 (Mitofusin-2)

Name: MFN2 K38del (p.Lys38del) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-10
License: https://catvariant.com/terms-of-use

K38del (p.Lys38del) in MFN2 (Mitofusin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.

K38del (p.Lys38del) variant details

rs1478175861
gnomAD 1-11989273-CAAG-C
Inframe Deletion
Variant Prioritization Score for Impact Estimate 0.569
CADD 20.40
Most common in the Non-Finnish European population (allele frequency 1.8e-06)
Structural context available
Literature evidence available