L292P (p.Leu292Pro) variant of MLH1 (DNA mismatch repair protein Mlh1)
L292P (p.Leu292Pro) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary nonpolyposis colorectal neoplasms; Lynch syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
L292P (p.Leu292Pro) variant details
- p.Leu292Pro
- rs63750517
- ClinGen CA012754
- ClinVar RCV000630228
- ClinVar RCV002371909
- Pathogenic/Likely pathogenic
- Hereditary nonpolyposis colorectal neoplasms; Lynch syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.75
- MetaSVM 0.64
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Hereditary nonpolyposis colorectal neoplasms; Lynch syndrome; no)
- EBI: Pathogenic (in LYNCH2)
- UniProt: Pathogenic (in LYNCH2)
- Structural context available
- Cited in: Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States. (PMID 12362047)
- Cited in: Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). (PMID 16451135)