E663D (p.Glu663Asp) variant of MLH1 (DNA mismatch repair protein Mlh1)
E663D (p.Glu663Asp) 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 Lynch syndrome; Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
E663D (p.Glu663Asp) variant details
- p.Glu663Asp
- rs63751662
- ClinGen CA008016
- ClinVar RCV000075462
- ClinVar RCV000256174
- Uncertain significance
- Lynch syndrome; Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- ESM-1b 1.00
- AlphaMissense 0.82
- MutPred 0.39
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer. (PMID 17060676)
- Cited in: National Academy of Clinical Biochemistry laboratory medicine practice guidelines for use of tumor markers in… (PMID 19042984)