E13Q (p.Glu13Gln) variant of MLH1 (DNA mismatch repair protein Mlh1)
E13Q (p.Glu13Gln) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
E13Q (p.Glu13Gln) variant details
- p.Glu13Gln
- rs587779008
- ClinGen CA72786491
- ClinVar RCV000563924
- ClinVar RCV001251349
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.67
- ESM-1b 1.00
- AlphaMissense 0.23
- CADD 27.00
- PolyPhen-2 0.80
- SIFT 0.06
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)
- Cited in: American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. (PMID 20065170)