E102K (p.Glu102Lys) variant of MLH1 (DNA mismatch repair protein Mlh1)
E102K (p.Glu102Lys) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Lynch syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
E102K (p.Glu102Lys) variant details
- p.Glu102Lys
- rs63750453
- ClinGen CA009641
- ClinVar RCV000075627
- ClinVar RCV000216042
- Likely pathogenic
- Lynch syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Lynch syndrome 1)
- EBI: Pathogenic (in LYNCH2)
- UniProt: Pathogenic (in LYNCH2)
- Population evidence available
- Structural context available
- Cited in: Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. (PMID 17510385)
- Cited in: ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer. (PMID 17060676)