K311E (p.Lys311Glu) variant of MLH1 (DNA mismatch repair protein Mlh1)
K311E (p.Lys311Glu) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
K311E (p.Lys311Glu) variant details
- p.Lys311Glu
- rs876658657
- ClinGen CA10578235
- ClinVar RCV000216819
- ClinVar RCV000473970
- Likely pathogenic
- Lynch syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.97
- CADD 29.10
- ClinVar: Likely pathogenic (Lynch syndrome 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- 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)