M43S (p.Met43Ser) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)

Name: UGT1A1 M43S (p.Met43Ser) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-09
License: https://catvariant.com/terms-of-use

M43S (p.Met43Ser) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.

M43S (p.Met43Ser) variant details

p.Met43Ser
gnomAD 2-233760414-AT-A
Frameshift
Variant Prioritization Score for Impact Estimate 0.299
CADD 20.90
Most common in the 1KG:IBS population (allele frequency 0.017)
Structural context available
Literature evidence available