p.Lys123dup variant of CBS (Cystathionine beta-synthase)

Name: CBS p.Lys123dup variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-10-09
License: https://catvariant.com/terms-of-use

p.Lys123dup in CBS (Cystathionine beta-synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.

p.Lys123dup variant details

gnomAD 21-43055890-C-CTT
Inframe Insertion
Variant Prioritization Score for Impact Estimate 0.106
CADD 3.55
Most common in the Non-Finnish European population (allele frequency 0.00047)
Structural context available
CBS low-B6 imputed and refined: score 0.0355
Literature evidence available