Q24E (p.Gln24Glu) variant of MLH3 (DNA mismatch repair protein Mlh3)
Q24E (p.Gln24Glu) in MLH3 (DNA mismatch repair protein Mlh3) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HNPCC7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
Q24E (p.Gln24Glu) variant details
- p.Gln24Glu
- rs28937870
- ClinGen CA117588
- ClinVar RCV000005897
- ClinVar RCV004018569
- Pathogenic
- in HNPCC7
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.45
- AlphaMissense 0.14
- MetaLR 0.37
- MetaSVM -0.30
- CADD 25.30
- PolyPhen-2 1.00
- EBI: Pathogenic (in HNPCC7)
- UniProt: Pathogenic (in HNPCC7)
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: A role for MLH3 in hereditary nonpolyposis colorectal cancer. (PMID 11586295)
- Cited in: The first functional study of MLH3 mutations found in cancer patients. (PMID 18521850)