E102D (p.Glu102Asp) variant of MLH1 (DNA mismatch repair protein Mlh1)
E102D (p.Glu102Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
E102D (p.Glu102Asp) variant details
- p.Glu102Asp
- rs63751665
- ClinGen CA009696
- ClinVar RCV000075636
- ClinVar RCV001048439
- Uncertain significance
- Lynch syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 35.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Lynch syndrome)
- EBI: Pathogenic (in LYNCH2)
- UniProt: Pathogenic (in LYNCH2)
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- 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)