E13K (p.Glu13Lys) variant of MLH1 (DNA mismatch repair protein Mlh1)
E13K (p.Glu13Lys) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary nonpolyposis colorectal neoplasms; Breast and/or ovarian cancer; Here. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
E13K (p.Glu13Lys) variant details
- p.Glu13Lys
- rs587779008
- ClinGen CA010013
- NCI-TCGA Cosmic COSV5161
- NCI-TCGA Cosmic COSV5162
- Conflicting interpretations
- Hereditary nonpolyposis colorectal neoplasms; Breast and/or ovarian cancer; Here
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.78
- ESM-1b 0.88
- AlphaMissense 0.33
- CADD 32.00
- PolyPhen-2 0.58
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary nonpolyposis colorectal neoplasms; Breast and/or ovar)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- 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)