K84E (p.Lys84Glu) variant of MLH1 (DNA mismatch repair protein Mlh1)
K84E (p.Lys84Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
K84E (p.Lys84Glu) variant details
- p.Lys84Glu
- rs63750641
- ClinGen CA009442
- ClinVar RCV000075606
- ClinVar RCV001201354
- Likely pathogenic
- Lynch syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (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: Microsatellite instability-a useful diagnostic tool to select patients at high risk for hereditary non-polyposis… (PMID 10323887)
- Cited in: Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. (PMID 16083711)