L749P (p.Leu749Pro) variant of MLH1 (DNA mismatch repair protein Mlh1)
L749P (p.Leu749Pro) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Lynch syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
L749P (p.Leu749Pro) variant details
- p.Leu749Pro
- rs267607894
- ClinGen CA009197
- ClinVar RCV000075583
- ClinVar RCV000216146
- Pathogenic
- Lynch syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.986
- ESM-1b 1.00
- AlphaMissense 1.00
- MutPred 0.95
- ClinVar: Pathogenic (Lynch syndrome)
- EBI: Pathogenic (in CRC)
- UniProt: Pathogenic (in CRC)
- Structural context available
- Cited in: Microsatellite instability and mutation analysis among southern Italian patients with colorectal carcinoma: detection… (PMID 14504054)
- Cited in: ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer. (PMID 17060676)