L260R (p.Leu260Arg) variant of MLH1 (DNA mismatch repair protein Mlh1)
L260R (p.Leu260Arg) 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 0.85 / 1. The record also includes published literature and structural context.
L260R (p.Leu260Arg) variant details
- p.Leu260Arg
- rs63751283
- ClinGen CA012020
- cosmic curated COSV10956
- ClinVar RCV000075841
- Pathogenic
- Lynch syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.66
- MetaSVM 0.66
- PolyPhen-2 0.96
- SIFT 0.02
- ClinVar: Pathogenic (Lynch syndrome)
- EBI: Pathogenic (in CRC)
- UniProt: Pathogenic (in CRC)
- Structural context available
- Cited in: Mutational germline analysis of hMSH2 and hMLH1 genes in early onset colorectal cancer patients. (PMID 10882759)
- Cited in: Missense mutations in hMLH1 associated with colorectal cancer. (PMID 10598809)